RGD:150530830 Rat Genome Database

Variant: RGD:150530830 - Homo sapiens

RGD ID:

150530830

RS ID:

rs1191958022

ClinVar ID:

CV1302759

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

TANGO2

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	22	20,030,880
GRCh38	22	20,043,357

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001322160.2:c.-121T>G NM_001322173.2:c.-121T>G NM_001322174.2:c.-121T>G NM_001322149.2:c.182T>G More...	05/21/2021	5 prime utr variant	uncertain significance	METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION; Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration

Disease Annotations Click to see Annotation Detail View

Variant Details

Variant Transcripts

Gene Symbol:	TANGO2
Accession:	NM_001283235
Location:	5UTRS;EXON

Gene Symbol:	TANGO2
Accession:	NM_001322146
Location:	5UTRS;EXON

Gene Symbol:	TANGO2
Accession:	NM_001322153
Location:	5UTRS;EXON

Gene Symbol:	TANGO2
Accession:	NM_001322173
Location:	5UTRS;EXON

Gene Symbol:	TANGO2
Accession:	NM_001322175
Location:	5UTRS;EXON

Gene Symbol:	TANGO2
Accession:	NM_001322160
Location:	5UTRS;EXON

Gene Symbol:	TANGO2
Accession:	NM_001322171
Location:	5UTRS;EXON

Gene Symbol:	TANGO2
Accession:	NM_001322150
Location:	5UTRS;EXON

Gene Symbol:	TANGO2
Accession:	NM_001322172
Location:	5UTRS;EXON

Gene Symbol:	TANGO2
Accession:	NM_001322155
Location:	5UTRS;EXON

Gene Symbol:	TANGO2
Accession:	NM_001322174
Location:	5UTRS;EXON

Gene Symbol:	TANGO2
Accession:	NM_001322148
Location:	5UTRS;EXON

Gene Symbol:	TANGO2
Accession:	NM_152906
Location:	EXON
Amino Acid Prediction:	L to R (nonsynonymous)
Amino Acid Position:	20

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCIIFFKFDPRPVSKNAYRRILAANRDEFYSRPSKLADFWGNNNEILSGLDMEEGKEGGTWLGISTRGKLAALTNYLQPQ LDWQARGRGELVTHFLTTDVDSLSYLKKVSMEGHLYNGFNLIAADLSTAKGDVICYYGNRGEPDPIVLTPGTYGLSNALL ETPWRKLCFGKQLFLEAVERSQALPKDVLIASLLDVLNNEEAQLPDPAIEDQGGEYVQPMLSKYAAVCVRCPGYGTRTNT IILVDADGHVTFTERSMMDKDLSHWETRTYEFTLQS*

Gene Symbol:	TANGO2
Accession:	NM_001322144
Location:	EXON
Amino Acid Prediction:	L to R (nonsynonymous)
Amino Acid Position:	61

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPPKLLCAGRCVGQDGAAQAWHCPPGQGHSVWDAVRMPLGAGTPVNVQRREDSATEGSHRRILAANRDEFYSRPSKLADF WGNNNEILSGLDMEEGKEGGTWLGISTRGKLAALTNYLQPQLDWQARGRGELVTHFLTTDVDSLSYLKKVSMEGHLYNGF NLIAADLSTAKGDVICYYGNRGEPDPIVLTPGTYGLSNALLETPWRKLCFGKQLFLEAVERSQALPKDVLIASLLDVLNN EEAAARPGHRGPGWGVRAAHAEQVRGCVRALPWLRHQNQHYHPGRCGRPRDLH*

Gene Symbol:	TANGO2
Accession:	XM_047441119
Location:	EXON
Amino Acid Prediction:	L to R (nonsynonymous)
Amino Acid Position:	61

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPPKLLCAGRCVGQDGAAQAWHCPPGQGHSVWDAVRMPLGAGTPVNVQRREDSATEGSHRRILAANRDEFYSRPSKLADF WGNNNEILSGLDMEEGKEGGTWLGISTRGKLAALTNYLQPQLDWQARGRGTYGLSNALLETPWRKLCFGKQLFLEAVERS QALPKDVLIASLLDVLNNEEAQLPDPAIEDQGGEYVQPMLSKYAAVCVRCPGYGTRYCSTVGAPPPIPCPTSHARGPAKK PSAHSQSQASSSPEWIPELLPCPDAAAGTNTIILVDADGHVTFTERSMMDKDLSHWETRTYEFTLQS*

Gene Symbol:	TANGO2
Accession:	NM_001283154
Location:	EXON
Amino Acid Prediction:	L to R (nonsynonymous)
Amino Acid Position:	20

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCIIFFKFDPRPVSKNAYRRILAANRDEFYSRPSKLADFWGNNNEILSGLDMEEGKEGGTWLGISTRGKLAALTNYLQPQ LDWQARGRGELVTHFLTTDVDSLSYLKKVSMEGHLYNGFNLIAADLSTAKGDVICYYGNRGEPDPIVLTPGTYGLSNALL ETPWRKLCFGKQLFLEAVERSQALPKDVLIASLLDVLNNEEAAARPGHRGPGWGVRAAHAEQVRGCVRALPWLRHQNQHY HPGRCGRPRDLH*

Gene Symbol:	TANGO2
Accession:	NM_001283129
Location:	EXON
Amino Acid Prediction:	L to R (nonsynonymous)
Amino Acid Position:	61

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPPKLLCAGRCVGQDGAAQAWHCPPGQGHSVWDAVRMPLGAGTPVNVQRREDSATEGSHRRILAANRDEFYSRPSKLADF WGNNNEILSGLDMEEGKEGGTWLGISTRGKLAALTNYLQPQLDWQARGRGELVTHFLTTDVDSLSYLKKVSMEGHLYNGF NLIAADLSTAKGDVICYYGNRGEPDPIVLTPGTYGLSNALLETPWRKLCFGKQLFLEAVERSQALPKDVLIASLLDVLNN EEAQLPDPAIEDQGGEYVQPMLSKYAAVCVRCPGYGTRTNTIILVDADGHVTFTERSMMDKDLSHWETRTYEFTLQS*

Gene Symbol:	TANGO2
Accession:	NM_001322142
Location:	EXON
Amino Acid Prediction:	L to R (nonsynonymous)
Amino Acid Position:	20

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCIIFFKFDPRPVSKNAYRRILAANRDEFYSRPSKLADFWGNNNEILSGLDMEEGKEGGTWLGISTRGKLAALTNYLQPQ LDWQARGRGELVTHFLTTDVDSLSYLKKVSMEGHLYNGFNLIAADLSTAKGDVICYYGNRGEPDPIVLTPGTYGLSNALL ETPWRKLCFGKQLFLEAVERSQALPKDVLIASLLDVLNNEEAQLPDPAIEDQGGEYVQPMLSKYAAVCVRCPGYGTRYCS TVGAPPPIPCPTSHARGPAKKPSAHSQSQASSSPEWIPELLPCPDAAAGTNTIILVDADGHVTFTERSMMDKDLSHWETR TYEFTLQS*

Gene Symbol:	TANGO2
Accession:	XM_017028577
Location:	EXON
Amino Acid Prediction:	L to R (nonsynonymous)
Amino Acid Position:	20

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCIIFFKFDPRPVSKNAYRRILAANRDEFYSRPSKLADFWGNNNEILSGLDMEEGKEGGTWLGISTRGKLAALTNYLQPQ LDWQARGRGELVTHFLTTDVDSLSYLKKVSMEGHLYNGFNLIAADLSTAKGDVICYYGNRGEPDPIVLTPGTYGLSNALL ETPWRKLCFGKQLFLEAVERSQALPKDVLIASLLDVLNNEEAQLPDPAIEDQGGEYVQPMLSKYAAVCVRCPGYGTRYCS TVGAPPPIPCPTSHARGPAKKPSAHSQSQASSSPEWIPELLPCPDAAAGTNTIILVDADGHVTFTERSMMDKDLSHWETR TYEFTLQS*

Gene Symbol:	TANGO2
Accession:	XM_047441126
Location:	EXON
Amino Acid Prediction:	L to R (nonsynonymous)
Amino Acid Position:	61

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPPKLLCAGRCVGQDGAAQAWHCPPGQGHSVWDAVRMPLGAGTPVNVQRREDSATEGSHRRILAANRDEFYSRPSKLADF WGNNNEILSGLDMEEGKEGGTWLGISTRGKLAALTNYLQPQLDWQARGRGELVTHFLTTDVDSLSYLKKVSMEGHLYNGF NLIAADLSTAKGDVICYYGNRGEPDPIVLTPGPLHGPLIAPHRHLRAEQRAAGDSLEEAVLWEAALPGGCGTEPGAAQGC AHRQPPGCAQQ*

Gene Symbol:	TANGO2
Accession:	XM_047441128
Location:	EXON
Amino Acid Prediction:	L to R (nonsynonymous)
Amino Acid Position:	61

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPPKLLCAGRCVGQDGAAQAWHCPPGQGHSVWDAVRMPLGAGTPVNVQRREDSATEGSHRRILAANRDEFYSRPSKLADF WGNNNEILSGLDMEEGKEGGTWLGISTRGKLAALTNYLQPQLDWQARGRGELVTHFLTTDVDSLSYLKKVSMEGHLYNGF NLIAADLSTAKGDVICYYGNRGEPDPIVLTPGTYGLSNALLETPWRKLCFGKQLFLEAVERSQALPKDVLIASLLDVLNN EEA*

Gene Symbol:	TANGO2
Accession:	XM_047441127
Location:	EXON
Amino Acid Prediction:	L to R (nonsynonymous)
Amino Acid Position:	61

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPPKLLCAGRCVGQDGAAQAWHCPPGQGHSVWDAVRMPLGAGTPVNVQRREDSATEGSHRRILAANRDEFYSRPSKLADF WGNNNEILSGLDMEEGKEGGTWLGISTRGKLAALTNYLQPQLDWQARGRGELVTHFLTTDVDSLSYLKKVSMEGHLYNGF NLIAADLSTAKGDVICYYGNRGEPDPIVLTPGPLHGPLIAPHRHLRAEQRAAGDSLEEAVLWEAALPGGCGTEPGAAQGC AHRQPPGCAQQ*

Gene Symbol:	TANGO2
Accession:	NM_001283179
Location:	EXON
Amino Acid Prediction:	L to R (nonsynonymous)
Amino Acid Position:	20

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCIIFFKFDPRPVSKNAYRRILAANRDEFYSRPSKLADFWGNNNEILSGLDMEEGKEGGTWLGISTRGKLAALTNYLQPQ LDWQARGRGTYGLSNALLETPWRKLCFGKQLFLEAVERSQALPKDVLIASLLDVLNNEEAQLPDPAIEDQGGEYVQPMLS KYAAVCVRCPGYGTRTNTIILVDADGHVTFTERSMMDKDLSHWETRTYEFTLQS*

Gene Symbol:	TANGO2
Accession:	NM_001322149
Location:	EXON
Amino Acid Prediction:	L to R (nonsynonymous)
Amino Acid Position:	61

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPPKLLCAGRCVGQDGAAQAWHCPPGQGHSVWDAVRMPLGAGTPVNVQRREDSATEGSHRRILAANRDEFYSRPSKLADF WGNNNEILSGLDMEEGKEGGTWLGISTRGKLAALTNYLQPQLDWQARGRGELVTHFLTTDVDSLSYLKKVSMEGHLYNGF NLIAADLRQLPDPAIEDQGGEYVQPMLSKYAAVCVRCPGYGTRTNTIILVDADGHVTFTERSMMDKDLSHWETRTYEFTL QS*

Gene Symbol:	TANGO2
Accession:	XM_047441121
Location:	EXON
Amino Acid Prediction:	L to R (nonsynonymous)
Amino Acid Position:	61

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPPKLLCAGRCVGQDGAAQAWHCPPGQGHSVWDAVRMPLGAGTPVNVQRREDSATEGSHRRILAANRDEFYSRPSKLADF WGNNNEILSGLDMEEGKEGGTWLGISTRGKLAALTNYLQPQLDWQARGRGTYGLSNALLETPWRKLCFGKQLFLEAVERS QALPKDVLIASLLDVLNNEEAQLPDPAIEDQGGEYVQPMLSKYAAVCVRCPGYGTRYCSTVGAPPPIPCPTSHARGPAKK PSAHSQSQASSSPEWIPELLPCPDAAAGTNTIILVDADGHVTFTERSMMDKDLSHWETRTYEFTLQS*

Gene Symbol:	TANGO2
Accession:	XM_047441118
Location:	EXON
Amino Acid Prediction:	L to R (nonsynonymous)
Amino Acid Position:	61

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPPKLLCAGRCVGQDGAAQAWHCPPGQGHSVWDAVRMPLGAGTPVNVQRREDSATEGSHRRILAANRDEFYSRPSKLADF WGNNNEILSGLDMEEGKEGGTWLGISTRGKLAALTNYLQPQLDWQARGRGELVTHFLTTDVDSLSYLKKVSMEGHLYNGF NLIAADLSTAKGDVICYYGNRGEPDPIVLTPGTYGLSNALLETPWRKLCFGKQLFLEAVERSQALPKDVLIASLLDVLNN EEAQLPDPAIEDQGGEYVQPMLSKYAAVCVRCPGYGTRYCSTVGAPPPIPCPTSHARGPAKKPSAHSQSQASSSPEWIPE LLPCPDAAAGTNTIILVDADGHVTFTERSMMDKDLSHWETRTYEFTLQS*

Gene Symbol:	TANGO2
Accession:	NM_001322141
Location:	EXON
Amino Acid Prediction:	L to R (nonsynonymous)
Amino Acid Position:	61

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPPKLLCAGRCVGQDGAAQAWHCPPGQGHSVWDAVRMPLGAGTPVNVQRREDSATEGSHRRILAANRDEFYSRPSKLADF WGNNNEILSGLDMEEGKEGGTWLGISTRGKLAALTNYLQPQLDWQARGRGELVTHFLTTDVDSLSYLKKVSMEGHLYNGF NLIAADLSTAKGDVICYYGNRGEPDPIVLTPGTYGLSNALLETPWRKLCFGKQLFLEAVERSQALPKDVLIASLLDVLNN EEAQLPDPAIEDQGGEYVQPMLSKYAAVCVRCPGYGTRYCSTVGAPPPIPCPTSHARGPAKKPSAHSQSQASSSPEWIPE LLPCPDAAAGTNTIILVDADGHVTFTERSMMDKDLSHWETRTYEFTLQS*

Gene Symbol:	TANGO2
Accession:	XM_017028579
Location:	EXON
Amino Acid Prediction:	L to R (nonsynonymous)
Amino Acid Position:	20

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCIIFFKFDPRPVSKNAYRRILAANRDEFYSRPSKLADFWGNNNEILSGLDMEEGKEGGTWLGISTRGKLAALTNYLQPQ LDWQARGRGELVTHFLTTDVDSLSYLKKVSMEGHLYNGFNLIAADLSTAKGDVICYYGNRGEPDPIVLTPGTYGLSNALL ETPWRKLCFGKQLFLEAVERSQALPKDVLIASLLDVLNNEEAQLPDPAIEDQGGEYVQPMLSKYAAVCVRCPGYGTRYCS TVGAPPPIPCPTSHARGPAKKPSAHSQSQASSSPEWIPELLPCPDAAAGTNTIILVDADGHVTFTERSMMDKDLSHWETR TYEFTLQS*

Gene Symbol:	TANGO2
Accession:	XM_017028586
Location:	EXON
Amino Acid Prediction:	L to R (nonsynonymous)
Amino Acid Position:	20

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCIIFFKFDPRPVSKNAYRRILAANRDEFYSRPSKLADFWGNNNEILSGLDMEEGKEGGTWLGISTRGKLAALTNYLQPQ LDWQARGRGTYGLSNALLETPWRKLCFGKQLFLEAVERSQALPKDVLIASLLDVLNNEEAQLPDPAIEDQGGEYVQPMLS KYAAVCVRCPGYGTRYCSTVGAPPPIPCPTSHARGPAKKPSAHSQSQASSSPEWIPELLPCPDAAAGTNTIILVDADGHV TFTERSMMDKDLSHWETRTYEFTLQS*

Gene Symbol:	TANGO2
Accession:	XM_017028585
Location:	EXON
Amino Acid Prediction:	L to R (nonsynonymous)
Amino Acid Position:	20

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCIIFFKFDPRPVSKNAYRRILAANRDEFYSRPSKLADFWGNNNEILSGLDMEEGKEGGTWLGISTRGKLAALTNYLQPQ LDWQARGRGTYGLSNALLETPWRKLCFGKQLFLEAVERSQALPKDVLIASLLDVLNNEEAQLPDPAIEDQGGEYVQPMLS KYAAVCVRCPGYGTRYCSTVGAPPPIPCPTSHARGPAKKPSAHSQSQASSSPEWIPELLPCPDAAAGTNTIILVDADGHV TFTERSMMDKDLSHWETRTYEFTLQS*

Gene Symbol:	TANGO2
Accession:	XM_047441132
Location:	EXON
Amino Acid Prediction:	L to R (nonsynonymous)
Amino Acid Position:	20

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCIIFFKFDPRPVSKNAYRRILAANRDEFYSRPSKLADFWGNNNEILSGLDMEEGKEGGTWLGISTRGKLAALTNYLQPQ LDWQARGRGELVTHFLTTDVDSLSYLKKVSMEGHLYNGFNLIAADLRQLPDPAIEDQGGEYVQPMLSKYAAVCVRCPGYG TRTNTIILVDADGHVTFTERSMMDKDLSHWETRTYEFTLQS*

Gene Symbol:	TANGO2
Accession:	NM_001283199
Location:	EXON
Amino Acid Prediction:	L to R (nonsynonymous)
Amino Acid Position:	20

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCIIFFKFDPRPVSKNAYRRILAANRDEFYSRPSKLADFWGNNNEILSGLDMEEGKEGGTWLGISTRGKLAALTNYLQPQ LDWQARGRGELVTHFLTTDVDSLSYLKKVSMEGHLYNGFNLIAADLRQLPDPAIEDQGGEYVQPMLSKYAAVCVRCPGYG TRTNTIILVDADGHVTFTERSMMDKDLSHWETRTYEFTLQS*

Gene Symbol:	TANGO2
Accession:	NM_001283116
Location:	EXON
Amino Acid Prediction:	L to R (nonsynonymous)
Amino Acid Position:	20

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCIIFFKFDPRPVSKNAYRRILAANRDEFYSRPSKLADFWGNNNEILSGLDMEEGKEGGTWLGISTRGKLAALTNYLQPQ LDWQARGRGELVTHFLTTDVDSLSYLKKVSMEGHLYNGFNLIAADLSTAKGDVICYYGNRGEPDPIVLTPGTYGLSNALL ETPWRKLCFGKQLFLEAVERSQALPKDVLIASLLDVLNNEEAQLPDPAIEDQGGEYVQPMLSKYAAVCVRCPGYGTRTNT IILVDADGHVTFTERSMMDKDLSHWETRTYEFTLQS*

Gene Symbol:	TANGO2
Accession:	XM_047441125
Location:	EXON
Amino Acid Prediction:	L to R (nonsynonymous)
Amino Acid Position:	61

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPPKLLCAGRCVGQDGAAQAWHCPPGQGHSVWDAVRMPLGAGTPVNVQRREDSATEGSHRRILAANRDEFYSRPSKLADF WGNNNEILSGLDMEEGKEGGTWLGISTRGKLAALTNYLQPQLDWQARGRGELVTHFLTTDVDSLSYLKKVSMEGHLYNGF NLIAADLSTAKGDVICYYGNRGEPDPIVLTPGPLHGPLIAPHRHLRAEQRAAGDSLEEAVLWEAALPGGCGTEPGAAQGC AHRQPPGCAQQ*

Gene Symbol:	TANGO2
Accession:	XM_047441124
Location:	EXON
Amino Acid Prediction:	L to R (nonsynonymous)
Amino Acid Position:	20

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCIIFFKFDPRPVSKNAYRRILAANRDEFYSRPSKLADFWGNNNEILSGLDMEEGKEGGTWLGISTRGKLAALTNYLQPQ LDWQARGRGELVTHFLTTDVDSLSYLKKVSMEGHLYNGFNLIAADLSTAKGDVICYYGNRGEPDPIVLTPGTYGLSNALL ETPWRKLCFGKQLFLEAVERSQALPKDVLIASLLDVLNNEEAQLPDPAIEDQGGEYVQPMLSKYAAVCVRCPGYGTRTNT IILVDADGHVTFTERSMMDKDLSHWETRTYEFTLQS*

Gene Symbol:	TANGO2
Accession:	XM_047441120
Location:	EXON
Amino Acid Prediction:	L to R (nonsynonymous)
Amino Acid Position:	61

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPPKLLCAGRCVGQDGAAQAWHCPPGQGHSVWDAVRMPLGAGTPVNVQRREDSATEGSHRRILAANRDEFYSRPSKLADF WGNNNEILSGLDMEEGKEGGTWLGISTRGKLAALTNYLQPQLDWQARGRGTYGLSNALLETPWRKLCFGKQLFLEAVERS QALPKDVLIASLLDVLNNEEAQLPDPAIEDQGGEYVQPMLSKYAAVCVRCPGYGTRYCSTVGAPPPIPCPTSHARGPAKK PSAHSQSQASSSPEWIPELLPCPDAAAGTNTIILVDADGHVTFTERSMMDKDLSHWETRTYEFTLQS*

Gene Symbol:	TANGO2
Accession:	NM_001283148
Location:	EXON
Amino Acid Prediction:	L to R (nonsynonymous)
Amino Acid Position:	20

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCIIFFKFDPRPVSKNAYRRILAANRDEFYSRPSKLADFWGNNNEILSGLDMEEGKEGGTWLGISTRGKLAALTNYLQPQ LDWQARGRGELVTHFLTTDVDSLSYLKKVSMEGHLYNGFNLIAADLSTAKGDVICYYGNRGEPDPIVLTPGTYGLSNALL ETPWRKLCFGKQLFLEAVERSQALPKDVLIASLLDVLNNEEAAARPGHRGPGWGVRAAHAEQVRGCVRALPWLRHQNQHY HPGRCGRPRDLH*

Gene Symbol:	TANGO2
Accession:	NM_001322147
Location:	EXON
Amino Acid Prediction:	L to R (nonsynonymous)
Amino Acid Position:	61

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPPKLLCAGRCVGQDGAAQAWHCPPGQGHSVWDAVRMPLGAGTPVNVQRREDSATEGSHRRILAANRDEFYSRPSKLADF WGNNNEILSGLDMEEGKEGGTWLGISTRGKLAALTNYLQPQLDWQARGRGTYGLSNALLETPWRKLCFGKQLFLEAVERS QALPKDVLIASLLDVLNNEEAQLPDPAIEDQGGEYVQPMLSKYAAVCVRCPGYGTRTNTIILVDADGHVTFTERSMMDKD LSHWETRTYEFTLQS*

Gene Symbol:	TANGO2
Accession:	NM_001322169
Location:	EXON
Amino Acid Prediction:	L to R (nonsynonymous)
Amino Acid Position:	20

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCIIFFKFDPRPVSKNAYRRILAANRDEFYSRPSKLADFWGNNNEILSGLDMEEGKEGGTWLGISTRGKLAALTNYLQPQ LDWQARGRGTYGLSNALLETPWRKLCFGKQLFLEAVERSQALPKDVLIASLLDVLNNEEAAARPGHRGPGWGVRAAHAEQ VRGCVRALPWLRHQNQHYHPGRCGRPRDLH*

Gene Symbol:	TANGO2
Accession:	NM_001322143
Location:	EXON
Amino Acid Prediction:	L to R (nonsynonymous)
Amino Acid Position:	61

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPPKLLCAGRCVGQDGAAQAWHCPPGQGHSVWDAVRMPLGAGTPVNVQRREDSATEGSHRRILAANRDEFYSRPSKLADF WGNNNEILSGLDMEEGKEGGTWLGISTRGKLAALTNYLQPQLDWQARGRGELVTHFLTTDVDSLSYLKKVSMEGHLYNGF NLIAADLSTAKGDVICYYGNRGEPDPIVLTPGTYGLSNALLETPWRKLCFGKQLFLEAVERSQALPKDVLIASLLDVLNN EEAQLPDPAIEDQGGEYVQPMLSKYAAVCVRCPGYGTRTNTIILVDADGHVTFTERSMMDKDLSHWETRTYEFTLQS*

Gene Symbol:	TANGO2
Accession:	NM_001322145
Location:	EXON
Amino Acid Prediction:	L to R (nonsynonymous)
Amino Acid Position:	61

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPPKLLCAGRCVGQDGAAQAWHCPPGQGHSVWDAVRMPLGAGTPVNVQRREDSATEGSHRRILAANRDEFYSRPSKLADF WGNNNEILSGLDMEEGKEGGTWLGISTRGKLAALTNYLQPQLDWQARGRGTYGLSNALLETPWRKLCFGKQLFLEAVERS QALPKDVLIASLLDVLNNEEAQLPDPAIEDQGGEYVQPMLSKYAAVCVRCPGYGTRTNTIILVDADGHVTFTERSMMDKD LSHWETRTYEFTLQS*

Gene Symbol:	TANGO2
Accession:	XM_047441130
Location:	EXON
Amino Acid Prediction:	L to R (nonsynonymous)
Amino Acid Position:	61

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPPKLLCAGRCVGQDGAAQAWHCPPGQGHSVWDAVRMPLGAGTPVNVQRREDSATEGSHRRILAANRDEFYSRPSKLADF WGNNNEILSGLDMEEGKEGGTWLGISTRGKLAALTNYLQPQLDWQARGRGELVTHFLTTDVDSLSYLKKVSMEGHLYNGF NLIAADLSTAKGDVICYYGNRGEPDPIVLTPGSCQTRPSRTRVGSTCSPC*

Gene Symbol:	TANGO2
Accession:	XM_047441129
Location:	EXON
Amino Acid Prediction:	L to R (nonsynonymous)
Amino Acid Position:	61

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPPKLLCAGRCVGQDGAAQAWHCPPGQGHSVWDAVRMPLGAGTPVNVQRREDSATEGSHRRILAANRDEFYSRPSKLADF WGNNNEILSGLDMEEGKEGGTWLGISTRGKLAALTNYLQPQLDWQARGRGELVTHFLTTDVDSLSYLKKVSMEGHLYNGF NLIAADLSTAKGDVICYYGNRGEPDPIVLTPGGPPTWREVKRFPLGCPLCL*

Gene Symbol:	TANGO2
Accession:	XM_047441122
Location:	EXON
Amino Acid Prediction:	L to R (nonsynonymous)
Amino Acid Position:	61

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPPKLLCAGRCVGQDGAAQAWHCPPGQGHSVWDAVRMPLGAGTPVNVQRREDSATEGSHRRILAANRDEFYSRPSKLADF WGNNNEILSGLDMEEGKEGGTWLGISTRGKLAALTNYLQPQLDWQARGRGELVTHFLTTDVDSLSYLKKVSMEGHLYNGF NLIAADLRQLPDPAIEDQGGEYVQPMLSKYAAVCVRCPGYGTRYCSTVGAPPPIPCPTSHARGPAKKPSAHSQSQASSSP EWIPELLPCPDAAAGTNTIILVDADGHVTFTERSMMDKDLSHWETRTYEFTLQS*

Gene Symbol:	TANGO2
Accession:	NM_001283215
Location:	EXON
Amino Acid Prediction:	L to R (nonsynonymous)
Amino Acid Position:	61

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPPKLLCAGRCVGQDGAAQAWHCPPGQGHSVWDAVRMPLGAGTPVNVQRREDSATEGSHRRILAANRDEFYSRPSKLADF WGNNNEILSGLDMEEGKEGGTWLGISTRGKLAALTNYLQPQLDWQARGRGELVTHFLTTDVDSLSYLKKVSMEGHLYNGF NLIAADLSTAKGDVICYYGNRGEPDPIVLTPEPTLSSW*

Gene Symbol:	TANGO2
Accession:	NM_001283248
Location:	EXON
Amino Acid Prediction:	L to R (nonsynonymous)
Amino Acid Position:	20

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCIIFFKFDPRPVSKNAYRRILAANRDEFYSRPSKLADFWGNNNEILSGLDMEEGKEGGTWLGISTRGKLAALTNYLQPQ LDWQARGRGSCQTRPSRTRVGSTCSPC*

Gene Symbol:	TANGO2
Accession:	NM_001322166
Location:	EXON
Amino Acid Prediction:	L to R (nonsynonymous)
Amino Acid Position:	20

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCIIFFKFDPRPVSKNAYRRILAANRDEFYSRPSKLADFWGNNNEILSGLDMEEGKEGGTWLGISTRGKLAALTNYLQPQ LDWQARGRGTYGLSNALLETPWRKLCFGKQLFLEAVERSQALPKDVLIASLLDVLNNEEAQLPDPAIEDQGGEYVQPMLS KYAAVCVRCPGYGTRTNTIILVDADGHVTFTERSMMDKDLSHWETRTYEFTLQS*

Gene Symbol:	TANGO2
Accession:	NM_001283106
Location:	EXON
Amino Acid Prediction:	L to R (nonsynonymous)
Amino Acid Position:	20

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCIIFFKFDPRPVSKNAYRRILAANRDEFYSRPSKLADFWGNNNEILSGLDMEEGKEGGTWLGISTRGKLAALTNYLQPQ LDWQARGRGELVTHFLTTDVDSLSYLKKVSMEGHLYNGFNLIAADLSTAKGDVICYYGNRGEPDPIVLTPGTYGLSNALL ETPWRKLCFGKQLFLEAVERSQALPKDVLIASLLDVLNNEEAQLPDPAIEDQGGEYVQPMLSKYAAVCVRCPGYGTRTNT IILVDADGHVTFTERSMMDKDLSHWETRTYEFTLQS*

Gene Symbol:	TANGO2
Accession:	XM_047441131
Location:	EXON
Amino Acid Prediction:	L to R (nonsynonymous)
Amino Acid Position:	61

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPPKLLCAGRCVGQDGAAQAWHCPPGQGHSVWDAVRMPLGAGTPVNVQRREDSATEGSHRRILAANRDEFYSRPSKLADF WGNNNEILSGLDMEEGKEGGTWLGISTRGKLAALTNYLQPQLDWQARGRGELVTHFLTTDVDSLSYLKKVSMEGHLYNGF NLIAADLRQLPDPAIEDQGGEYVQPMLSKYAAVCVRCPGYGTRTNTIILVDADGHVTFTERSMMDKDLSHWETRTYEFTL QS*

Gene Symbol:	TANGO2
Accession:	NM_001283186
Location:	EXON
Amino Acid Prediction:	L to R (nonsynonymous)
Amino Acid Position:	20

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCIIFFKFDPRPVSKNAYRRILAANRDEFYSRPSKLADFWGNNNEILSGLDMEEGKEGGTWLGISTRGKLAALTNYLQPQ LDWQARGRGTYGLSNALLETPWRKLCFGKQLFLEAVERSQALPKDVLIASLLDVLNNEEAQLPDPAIEDQGGEYVQPMLS KYAAVCVRCPGYGTRTNTIILVDADGHVTFTERSMMDKDLSHWETRTYEFTLQS*

Gene Symbol:	TANGO2
Accession:	NM_001322163
Location:	EXON
Amino Acid Prediction:	L to R (nonsynonymous)
Amino Acid Position:	20

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCIIFFKFDPRPVSKNAYRRILAANRDEFYSRPSKLADFWGNNNEILSGLDMEEGKEGGTWLGISTRGKLAALTNYLQPQ LDWQARGRGTYGLSNALLETPWRKLCFGKQLFLEAVERSQALPKDVLIASLLDVLNNEEAQLPDPAIEDQGGEYVQPMLS KYAAVCVRCPGYGTRTNTIILVDADGHVTFTERSMMDKDLSHWETRTYEFTLQS*

Gene Symbol:	TANGO2
Accession:	NM_001322167
Location:	EXON
Amino Acid Prediction:	L to R (nonsynonymous)
Amino Acid Position:	20

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCIIFFKFDPRPVSKNAYRRILAANRDEFYSRPSKLADFWGNNNEILSGLDMEEGKEGGTWLGISTRGKLAALTNYLQPQ LDWQARGRGTYGLSNALLETPWRKLCFGKQLFLEAVERSQALPKDVLIASLLDVLNNEEAQLPDPAIEDQGGEYVQPMLS KYAAVCVRCPGYGTRTNTIILVDADGHVTFTERSMMDKDLSHWETRTYEFTLQS*

Gene Symbol:	TANGO2
Accession:	XM_017028580
Location:	EXON
Amino Acid Prediction:	L to R (nonsynonymous)
Amino Acid Position:	20

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCIIFFKFDPRPVSKNAYRRILAANRDEFYSRPSKLADFWGNNNEILSGLDMEEGKEGGTWLGISTRGKLAALTNYLQPQ LDWQARGRGELVTHFLTTDVDSLSYLKKVSMEGHLYNGFNLIAADLSTAKGDVICYYGNRGEPDPIVLTPGTYGLSNALL ETPWRKLCFGKQLFLEAVERSQALPKDVLIASLLDVLNNEEAQLPDPAIEDQGGEYVQPMLSKYAAVCVRCPGYGTRYCS TVGAPPPIPCPTSHARGPAKKPSAHSQSQASSSPEWIPELLPCPDAAAGTNTIILVDADGHVTFTERSMMDKDLSHWETR TYEFTLQS*

Gene Symbol:	TANGO2
Accession:	XM_047441123
Location:	EXON
Amino Acid Prediction:	L to R (nonsynonymous)
Amino Acid Position:	61

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPPKLLCAGRCVGQDGAAQAWHCPPGQGHSVWDAVRMPLGAGTPVNVQRREDSATEGSHRRILAANRDEFYSRPSKLADF WGNNNEILSGLDMEEGKEGGTWLGISTRGKLAALTNYLQPQLDWQARGRGELVTHFLTTDVDSLSYLKKVSMEGHLYNGF NLIAADLSTAKGDVICYYGNRGEPDPIVLTPGTYGLSNALLETPWRKLCFGKQLFLEAVERSQALPKDVLIASLLDVLNN EEARPRPSASASLPHWKSPTWACPAAPPSCSCQTRPSRTRVGSTCSPC*

Gene Symbol:	TANGO2
Accession:	NR_136211
Location:	EXON;NON-CODING

Gene Symbol:	TANGO2
Accession:	NR_136212
Location:	EXON;NON-CODING

Gene Symbol:	TANGO2
Accession:	NR_104274
Location:	EXON;NON-CODING

Gene Symbol:	TANGO2
Accession:	NR_104275
Location:	EXON;NON-CODING

Gene Symbol:	TANGO2
Accession:	NR_136206
Location:	EXON;NON-CODING

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:25741868	PMID:31276219

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV001761391	CLINVAR
dbSNP (RS)	rs1191958022	CLINVAR
MedGen	C5567524	CLINVAR
NCBI Gene	TANGO2	CLINVAR
OMIM	616830	CLINVAR
	616878	CLINVAR
OMIM Allele	616830.0008	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
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InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

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MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Variant: RGD:150530830 - Homo sapiens

Imported Disease Annotations - ClinVar