RGD:151889049 Rat Genome Database

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Variant: RGD:151889049 -  Homo sapiens

RGD ID: 151889049
RS ID: rs377447080
ClinVar ID: CV1402532
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TANGO2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 22 20,049,149
GRCh38 22 20,061,626
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001283235.3:c.254C>T
NM_001322150.2:c.254C>T
NM_001322153.2:c.254C>T
NM_001322155.2:c.254C>T
More... 		10/08/2021 intron variant uncertain significance none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TANGO2
Accession:NM_001283116
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 183
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCIIFFKFDPRPVSKNAYRLILAANRDEFYSRPSKLADFWGNNNEILSGLDMEEGKEGGTWLGISTRGKLAALTNYLQPQ
LDWQARGRGELVTHFLTTDVDSLSYLKKVSMEGHLYNGFNLIAADLSTAKGDVICYYGNRGEPDPIVLTPGTYGLSNALL
ETPWRKLCFGKQLFLEAVERSQVLPKDVLIASLLDVLNNEEAQLPDPAIEDQGGEYVQPMLSKYAAVCVRCPGYGTRTNT
IILVDADGHVTFTERSMMDKDLSHWETRTYEFTLQS*

Gene Symbol:TANGO2
Accession:NM_001283235
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 85
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGHQHTWQAGSTHQLPAAAAGLAGPRASTAKGDVICYYGNRGEPDPIVLTPGTYGLSNALLETPWRKLCFGKQLFLEAV
ERSQVLPKDVLIASLLDVLNNEEAQLPDPAIEDQGGEYVQPMLSKYAAVCVRCPGYGTRTNTIILVDADGHVTFTERSMM
DKDLSHWETRTYEFTLQS*

Gene Symbol:TANGO2
Accession:NM_001322142
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 183
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCIIFFKFDPRPVSKNAYRLILAANRDEFYSRPSKLADFWGNNNEILSGLDMEEGKEGGTWLGISTRGKLAALTNYLQPQ
LDWQARGRGELVTHFLTTDVDSLSYLKKVSMEGHLYNGFNLIAADLSTAKGDVICYYGNRGEPDPIVLTPGTYGLSNALL
ETPWRKLCFGKQLFLEAVERSQVLPKDVLIASLLDVLNNEEAQLPDPAIEDQGGEYVQPMLSKYAAVCVRCPGYGTRYCS
TVGAPPPIPCPTSHARGPAKKPSAHSQSQASSSPEWIPELLPCPDAAAGTNTIILVDADGHVTFTERSMMDKDLSHWETR
TYEFTLQS*

Gene Symbol:TANGO2
Accession:NM_001322169
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 121
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCIIFFKFDPRPVSKNAYRLILAANRDEFYSRPSKLADFWGNNNEILSGLDMEEGKEGGTWLGISTRGKLAALTNYLQPQ
LDWQARGRGTYGLSNALLETPWRKLCFGKQLFLEAVERSQVLPKDVLIASLLDVLNNEEAAARPGHRGPGWGVRAAHAEQ
VRGCVRALPWLRHQNQHYHPGRCGRPRDLH*

Gene Symbol:TANGO2
Accession:NM_001322172
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 85
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGHQHTWQAGSTHQLPAAAAGLAGPRASTAKGDVICYYGNRGEPDPIVLTPGTYGLSNALLETPWRKLCFGKQLFLEAV
ERSQVLPKDVLIASLLDVLNNEEAQLPDPAIEDQGGEYVQPMLSKYAAVCVRCPGYGTRTNTIILVDADGHVTFTERSMM
DKDLSHWETRTYEFTLQS*

Gene Symbol:TANGO2
Accession:NM_001322175
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 85
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGHQHTWQAGSTHQLPAAAAGLAGPRASTAKGDVICYYGNRGEPDPIVLTPGTYGLSNALLETPWRKLCFGKQLFLEAV
ERSQVLPKDVLIASLLDVLNNEEAQLPDPAIEDQGGEYVQPMLSKYAAVCVRCPGYGTRTNTIILVDADGHVTFTERSMM
DKDLSHWETRTYEFTLQS*

Gene Symbol:TANGO2
Accession:NM_001322155
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 85
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGHQHTWQAGSTHQLPAAAAGLAGPRASTAKGDVICYYGNRGEPDPIVLTPGTYGLSNALLETPWRKLCFGKQLFLEAV
ERSQVLPKDVLIASLLDVLNNEEAQLPDPAIEDQGGEYVQPMLSKYAAVCVRCPGYGTRYCSTVGAPPPIPCPTSHARGP
AKKPSAHSQSQASSSPEWIPELLPCPDAAAGTNTIILVDADGHVTFTERSMMDKDLSHWETRTYEFTLQS*

Gene Symbol:TANGO2
Accession:XM_047441118
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 224
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPPKLLCAGRCVGQDGAAQAWHCPPGQGHSVWDAVRMPLGAGTPVNVQRREDSATEGSHRLILAANRDEFYSRPSKLADF
WGNNNEILSGLDMEEGKEGGTWLGISTRGKLAALTNYLQPQLDWQARGRGELVTHFLTTDVDSLSYLKKVSMEGHLYNGF
NLIAADLSTAKGDVICYYGNRGEPDPIVLTPGTYGLSNALLETPWRKLCFGKQLFLEAVERSQVLPKDVLIASLLDVLNN
EEAQLPDPAIEDQGGEYVQPMLSKYAAVCVRCPGYGTRYCSTVGAPPPIPCPTSHARGPAKKPSAHSQSQASSSPEWIPE
LLPCPDAAAGTNTIILVDADGHVTFTERSMMDKDLSHWETRTYEFTLQS*

Gene Symbol:TANGO2
Accession:NM_001322147
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 162
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPPKLLCAGRCVGQDGAAQAWHCPPGQGHSVWDAVRMPLGAGTPVNVQRREDSATEGSHRLILAANRDEFYSRPSKLADF
WGNNNEILSGLDMEEGKEGGTWLGISTRGKLAALTNYLQPQLDWQARGRGTYGLSNALLETPWRKLCFGKQLFLEAVERS
QVLPKDVLIASLLDVLNNEEAQLPDPAIEDQGGEYVQPMLSKYAAVCVRCPGYGTRTNTIILVDADGHVTFTERSMMDKD
LSHWETRTYEFTLQS*

Gene Symbol:TANGO2
Accession:NM_001322166
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 121
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCIIFFKFDPRPVSKNAYRLILAANRDEFYSRPSKLADFWGNNNEILSGLDMEEGKEGGTWLGISTRGKLAALTNYLQPQ
LDWQARGRGTYGLSNALLETPWRKLCFGKQLFLEAVERSQVLPKDVLIASLLDVLNNEEAQLPDPAIEDQGGEYVQPMLS
KYAAVCVRCPGYGTRTNTIILVDADGHVTFTERSMMDKDLSHWETRTYEFTLQS*

Gene Symbol:TANGO2
Accession:XM_047441128
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 224
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPPKLLCAGRCVGQDGAAQAWHCPPGQGHSVWDAVRMPLGAGTPVNVQRREDSATEGSHRLILAANRDEFYSRPSKLADF
WGNNNEILSGLDMEEGKEGGTWLGISTRGKLAALTNYLQPQLDWQARGRGELVTHFLTTDVDSLSYLKKVSMEGHLYNGF
NLIAADLSTAKGDVICYYGNRGEPDPIVLTPGTYGLSNALLETPWRKLCFGKQLFLEAVERSQVLPKDVLIASLLDVLNN
EEA*

Gene Symbol:TANGO2
Accession:NM_001283179
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 121
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCIIFFKFDPRPVSKNAYRLILAANRDEFYSRPSKLADFWGNNNEILSGLDMEEGKEGGTWLGISTRGKLAALTNYLQPQ
LDWQARGRGTYGLSNALLETPWRKLCFGKQLFLEAVERSQVLPKDVLIASLLDVLNNEEAQLPDPAIEDQGGEYVQPMLS
KYAAVCVRCPGYGTRTNTIILVDADGHVTFTERSMMDKDLSHWETRTYEFTLQS*

Gene Symbol:TANGO2
Accession:NM_001322163
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 121
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCIIFFKFDPRPVSKNAYRLILAANRDEFYSRPSKLADFWGNNNEILSGLDMEEGKEGGTWLGISTRGKLAALTNYLQPQ
LDWQARGRGTYGLSNALLETPWRKLCFGKQLFLEAVERSQVLPKDVLIASLLDVLNNEEAQLPDPAIEDQGGEYVQPMLS
KYAAVCVRCPGYGTRTNTIILVDADGHVTFTERSMMDKDLSHWETRTYEFTLQS*

Gene Symbol:TANGO2
Accession:NM_001322144
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 224
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPPKLLCAGRCVGQDGAAQAWHCPPGQGHSVWDAVRMPLGAGTPVNVQRREDSATEGSHRLILAANRDEFYSRPSKLADF
WGNNNEILSGLDMEEGKEGGTWLGISTRGKLAALTNYLQPQLDWQARGRGELVTHFLTTDVDSLSYLKKVSMEGHLYNGF
NLIAADLSTAKGDVICYYGNRGEPDPIVLTPGTYGLSNALLETPWRKLCFGKQLFLEAVERSQVLPKDVLIASLLDVLNN
EEAAARPGHRGPGWGVRAAHAEQVRGCVRALPWLRHQNQHYHPGRCGRPRDLH*

Gene Symbol:TANGO2
Accession:NM_001322150
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 85
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGHQHTWQAGSTHQLPAAAAGLAGPRASTAKGDVICYYGNRGEPDPIVLTPGTYGLSNALLETPWRKLCFGKQLFLEAV
ERSQVLPKDVLIASLLDVLNNEEAQLPDPAIEDQGGEYVQPMLSKYAAVCVRCPGYGTRYCSTVGAPPPIPCPTSHARGP
AKKPSAHSQSQASSSPEWIPELLPCPDAAAGTNTIILVDADGHVTFTERSMMDKDLSHWETRTYEFTLQS*

Gene Symbol:TANGO2
Accession:NM_001322143
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 224
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPPKLLCAGRCVGQDGAAQAWHCPPGQGHSVWDAVRMPLGAGTPVNVQRREDSATEGSHRLILAANRDEFYSRPSKLADF
WGNNNEILSGLDMEEGKEGGTWLGISTRGKLAALTNYLQPQLDWQARGRGELVTHFLTTDVDSLSYLKKVSMEGHLYNGF
NLIAADLSTAKGDVICYYGNRGEPDPIVLTPGTYGLSNALLETPWRKLCFGKQLFLEAVERSQVLPKDVLIASLLDVLNN
EEAQLPDPAIEDQGGEYVQPMLSKYAAVCVRCPGYGTRTNTIILVDADGHVTFTERSMMDKDLSHWETRTYEFTLQS*

Gene Symbol:TANGO2
Accession:NM_152906
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 183
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCIIFFKFDPRPVSKNAYRLILAANRDEFYSRPSKLADFWGNNNEILSGLDMEEGKEGGTWLGISTRGKLAALTNYLQPQ
LDWQARGRGELVTHFLTTDVDSLSYLKKVSMEGHLYNGFNLIAADLSTAKGDVICYYGNRGEPDPIVLTPGTYGLSNALL
ETPWRKLCFGKQLFLEAVERSQVLPKDVLIASLLDVLNNEEAQLPDPAIEDQGGEYVQPMLSKYAAVCVRCPGYGTRTNT
IILVDADGHVTFTERSMMDKDLSHWETRTYEFTLQS*

Gene Symbol:TANGO2
Accession:XM_017028586
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 121
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCIIFFKFDPRPVSKNAYRLILAANRDEFYSRPSKLADFWGNNNEILSGLDMEEGKEGGTWLGISTRGKLAALTNYLQPQ
LDWQARGRGTYGLSNALLETPWRKLCFGKQLFLEAVERSQVLPKDVLIASLLDVLNNEEAQLPDPAIEDQGGEYVQPMLS
KYAAVCVRCPGYGTRYCSTVGAPPPIPCPTSHARGPAKKPSAHSQSQASSSPEWIPELLPCPDAAAGTNTIILVDADGHV
TFTERSMMDKDLSHWETRTYEFTLQS*

Gene Symbol:TANGO2
Accession:XM_017028580
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 183
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCIIFFKFDPRPVSKNAYRLILAANRDEFYSRPSKLADFWGNNNEILSGLDMEEGKEGGTWLGISTRGKLAALTNYLQPQ
LDWQARGRGELVTHFLTTDVDSLSYLKKVSMEGHLYNGFNLIAADLSTAKGDVICYYGNRGEPDPIVLTPGTYGLSNALL
ETPWRKLCFGKQLFLEAVERSQVLPKDVLIASLLDVLNNEEAQLPDPAIEDQGGEYVQPMLSKYAAVCVRCPGYGTRYCS
TVGAPPPIPCPTSHARGPAKKPSAHSQSQASSSPEWIPELLPCPDAAAGTNTIILVDADGHVTFTERSMMDKDLSHWETR
TYEFTLQS*

Gene Symbol:TANGO2
Accession:XM_047441120
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 162
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPPKLLCAGRCVGQDGAAQAWHCPPGQGHSVWDAVRMPLGAGTPVNVQRREDSATEGSHRLILAANRDEFYSRPSKLADF
WGNNNEILSGLDMEEGKEGGTWLGISTRGKLAALTNYLQPQLDWQARGRGTYGLSNALLETPWRKLCFGKQLFLEAVERS
QVLPKDVLIASLLDVLNNEEAQLPDPAIEDQGGEYVQPMLSKYAAVCVRCPGYGTRYCSTVGAPPPIPCPTSHARGPAKK
PSAHSQSQASSSPEWIPELLPCPDAAAGTNTIILVDADGHVTFTERSMMDKDLSHWETRTYEFTLQS*

Gene Symbol:TANGO2
Accession:NM_001322148
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 149
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGHQHTWQAGSTHQLPAAAAGLAGPRARGPHISVPGRRAHACSCGHSICPLPTGELVTHFLTTDVDSLSYLKKVSMEGH
LYNGFNLIAADLSTAKGDVICYYGNRGEPDPIVLTPGTYGLSNALLETPWRKLCFGKQLFLEAVERSQVLPKDVLIASLL
DVLNNEEAQLPDPAIEDQGGEYVQPMLSKYAAVCVRCPGYGTRTNTIILVDADGHVTFTERSMMDKDLSHWETRTYEFTL
QS*

Gene Symbol:TANGO2
Accession:XM_047441119
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 162
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPPKLLCAGRCVGQDGAAQAWHCPPGQGHSVWDAVRMPLGAGTPVNVQRREDSATEGSHRLILAANRDEFYSRPSKLADF
WGNNNEILSGLDMEEGKEGGTWLGISTRGKLAALTNYLQPQLDWQARGRGTYGLSNALLETPWRKLCFGKQLFLEAVERS
QVLPKDVLIASLLDVLNNEEAQLPDPAIEDQGGEYVQPMLSKYAAVCVRCPGYGTRYCSTVGAPPPIPCPTSHARGPAKK
PSAHSQSQASSSPEWIPELLPCPDAAAGTNTIILVDADGHVTFTERSMMDKDLSHWETRTYEFTLQS*

Gene Symbol:TANGO2
Accession:NM_001283148
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 183
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCIIFFKFDPRPVSKNAYRLILAANRDEFYSRPSKLADFWGNNNEILSGLDMEEGKEGGTWLGISTRGKLAALTNYLQPQ
LDWQARGRGELVTHFLTTDVDSLSYLKKVSMEGHLYNGFNLIAADLSTAKGDVICYYGNRGEPDPIVLTPGTYGLSNALL
ETPWRKLCFGKQLFLEAVERSQVLPKDVLIASLLDVLNNEEAAARPGHRGPGWGVRAAHAEQVRGCVRALPWLRHQNQHY
HPGRCGRPRDLH*

Gene Symbol:TANGO2
Accession:XM_017028579
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 183
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCIIFFKFDPRPVSKNAYRLILAANRDEFYSRPSKLADFWGNNNEILSGLDMEEGKEGGTWLGISTRGKLAALTNYLQPQ
LDWQARGRGELVTHFLTTDVDSLSYLKKVSMEGHLYNGFNLIAADLSTAKGDVICYYGNRGEPDPIVLTPGTYGLSNALL
ETPWRKLCFGKQLFLEAVERSQVLPKDVLIASLLDVLNNEEAQLPDPAIEDQGGEYVQPMLSKYAAVCVRCPGYGTRYCS
TVGAPPPIPCPTSHARGPAKKPSAHSQSQASSSPEWIPELLPCPDAAAGTNTIILVDADGHVTFTERSMMDKDLSHWETR
TYEFTLQS*

Gene Symbol:TANGO2
Accession:XM_017028585
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 121
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCIIFFKFDPRPVSKNAYRLILAANRDEFYSRPSKLADFWGNNNEILSGLDMEEGKEGGTWLGISTRGKLAALTNYLQPQ
LDWQARGRGTYGLSNALLETPWRKLCFGKQLFLEAVERSQVLPKDVLIASLLDVLNNEEAQLPDPAIEDQGGEYVQPMLS
KYAAVCVRCPGYGTRYCSTVGAPPPIPCPTSHARGPAKKPSAHSQSQASSSPEWIPELLPCPDAAAGTNTIILVDADGHV
TFTERSMMDKDLSHWETRTYEFTLQS*

Gene Symbol:TANGO2
Accession:NM_001283186
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 121
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCIIFFKFDPRPVSKNAYRLILAANRDEFYSRPSKLADFWGNNNEILSGLDMEEGKEGGTWLGISTRGKLAALTNYLQPQ
LDWQARGRGTYGLSNALLETPWRKLCFGKQLFLEAVERSQVLPKDVLIASLLDVLNNEEAQLPDPAIEDQGGEYVQPMLS
KYAAVCVRCPGYGTRTNTIILVDADGHVTFTERSMMDKDLSHWETRTYEFTLQS*

Gene Symbol:TANGO2
Accession:NM_001322141
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 224
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPPKLLCAGRCVGQDGAAQAWHCPPGQGHSVWDAVRMPLGAGTPVNVQRREDSATEGSHRLILAANRDEFYSRPSKLADF
WGNNNEILSGLDMEEGKEGGTWLGISTRGKLAALTNYLQPQLDWQARGRGELVTHFLTTDVDSLSYLKKVSMEGHLYNGF
NLIAADLSTAKGDVICYYGNRGEPDPIVLTPGTYGLSNALLETPWRKLCFGKQLFLEAVERSQVLPKDVLIASLLDVLNN
EEAQLPDPAIEDQGGEYVQPMLSKYAAVCVRCPGYGTRYCSTVGAPPPIPCPTSHARGPAKKPSAHSQSQASSSPEWIPE
LLPCPDAAAGTNTIILVDADGHVTFTERSMMDKDLSHWETRTYEFTLQS*

Gene Symbol:TANGO2
Accession:XM_017028577
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 183
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCIIFFKFDPRPVSKNAYRLILAANRDEFYSRPSKLADFWGNNNEILSGLDMEEGKEGGTWLGISTRGKLAALTNYLQPQ
LDWQARGRGELVTHFLTTDVDSLSYLKKVSMEGHLYNGFNLIAADLSTAKGDVICYYGNRGEPDPIVLTPGTYGLSNALL
ETPWRKLCFGKQLFLEAVERSQVLPKDVLIASLLDVLNNEEAQLPDPAIEDQGGEYVQPMLSKYAAVCVRCPGYGTRYCS
TVGAPPPIPCPTSHARGPAKKPSAHSQSQASSSPEWIPELLPCPDAAAGTNTIILVDADGHVTFTERSMMDKDLSHWETR
TYEFTLQS*

Gene Symbol:TANGO2
Accession:NM_001283106
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 183
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCIIFFKFDPRPVSKNAYRLILAANRDEFYSRPSKLADFWGNNNEILSGLDMEEGKEGGTWLGISTRGKLAALTNYLQPQ
LDWQARGRGELVTHFLTTDVDSLSYLKKVSMEGHLYNGFNLIAADLSTAKGDVICYYGNRGEPDPIVLTPGTYGLSNALL
ETPWRKLCFGKQLFLEAVERSQVLPKDVLIASLLDVLNNEEAQLPDPAIEDQGGEYVQPMLSKYAAVCVRCPGYGTRTNT
IILVDADGHVTFTERSMMDKDLSHWETRTYEFTLQS*

Gene Symbol:TANGO2
Accession:NM_001322173
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 85
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGHQHTWQAGSTHQLPAAAAGLAGPRASTAKGDVICYYGNRGEPDPIVLTPGTYGLSNALLETPWRKLCFGKQLFLEAV
ERSQVLPKDVLIASLLDVLNNEEAQLPDPAIEDQGGEYVQPMLSKYAAVCVRCPGYGTRTNTIILVDADGHVTFTERSMM
DKDLSHWETRTYEFTLQS*

Gene Symbol:TANGO2
Accession:NM_001322145
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 162
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPPKLLCAGRCVGQDGAAQAWHCPPGQGHSVWDAVRMPLGAGTPVNVQRREDSATEGSHRLILAANRDEFYSRPSKLADF
WGNNNEILSGLDMEEGKEGGTWLGISTRGKLAALTNYLQPQLDWQARGRGTYGLSNALLETPWRKLCFGKQLFLEAVERS
QVLPKDVLIASLLDVLNNEEAQLPDPAIEDQGGEYVQPMLSKYAAVCVRCPGYGTRTNTIILVDADGHVTFTERSMMDKD
LSHWETRTYEFTLQS*

Gene Symbol:TANGO2
Accession:NM_001322171
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 85
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGHQHTWQAGSTHQLPAAAAGLAGPRASTAKGDVICYYGNRGEPDPIVLTPGTYGLSNALLETPWRKLCFGKQLFLEAV
ERSQVLPKDVLIASLLDVLNNEEAQLPDPAIEDQGGEYVQPMLSKYAAVCVRCPGYGTRTNTIILVDADGHVTFTERSMM
DKDLSHWETRTYEFTLQS*

Gene Symbol:TANGO2
Accession:XM_047441121
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 162
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPPKLLCAGRCVGQDGAAQAWHCPPGQGHSVWDAVRMPLGAGTPVNVQRREDSATEGSHRLILAANRDEFYSRPSKLADF
WGNNNEILSGLDMEEGKEGGTWLGISTRGKLAALTNYLQPQLDWQARGRGTYGLSNALLETPWRKLCFGKQLFLEAVERS
QVLPKDVLIASLLDVLNNEEAQLPDPAIEDQGGEYVQPMLSKYAAVCVRCPGYGTRYCSTVGAPPPIPCPTSHARGPAKK
PSAHSQSQASSSPEWIPELLPCPDAAAGTNTIILVDADGHVTFTERSMMDKDLSHWETRTYEFTLQS*

Gene Symbol:TANGO2
Accession:NM_001283154
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 183
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCIIFFKFDPRPVSKNAYRLILAANRDEFYSRPSKLADFWGNNNEILSGLDMEEGKEGGTWLGISTRGKLAALTNYLQPQ
LDWQARGRGELVTHFLTTDVDSLSYLKKVSMEGHLYNGFNLIAADLSTAKGDVICYYGNRGEPDPIVLTPGTYGLSNALL
ETPWRKLCFGKQLFLEAVERSQVLPKDVLIASLLDVLNNEEAAARPGHRGPGWGVRAAHAEQVRGCVRALPWLRHQNQHY
HPGRCGRPRDLH*

Gene Symbol:TANGO2
Accession:NM_001322174
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 85
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGHQHTWQAGSTHQLPAAAAGLAGPRASTAKGDVICYYGNRGEPDPIVLTPGTYGLSNALLETPWRKLCFGKQLFLEAV
ERSQVLPKDVLIASLLDVLNNEEAQLPDPAIEDQGGEYVQPMLSKYAAVCVRCPGYGTRTNTIILVDADGHVTFTERSMM
DKDLSHWETRTYEFTLQS*

Gene Symbol:TANGO2
Accession:NM_001322153
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 85
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGHQHTWQAGSTHQLPAAAAGLAGPRASTAKGDVICYYGNRGEPDPIVLTPGTYGLSNALLETPWRKLCFGKQLFLEAV
ERSQVLPKDVLIASLLDVLNNEEAQLPDPAIEDQGGEYVQPMLSKYAAVCVRCPGYGTRYCSTVGAPPPIPCPTSHARGP
AKKPSAHSQSQASSSPEWIPELLPCPDAAAGTNTIILVDADGHVTFTERSMMDKDLSHWETRTYEFTLQS*

Gene Symbol:TANGO2
Accession:NM_001283129
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 224
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPPKLLCAGRCVGQDGAAQAWHCPPGQGHSVWDAVRMPLGAGTPVNVQRREDSATEGSHRLILAANRDEFYSRPSKLADF
WGNNNEILSGLDMEEGKEGGTWLGISTRGKLAALTNYLQPQLDWQARGRGELVTHFLTTDVDSLSYLKKVSMEGHLYNGF
NLIAADLSTAKGDVICYYGNRGEPDPIVLTPGTYGLSNALLETPWRKLCFGKQLFLEAVERSQVLPKDVLIASLLDVLNN
EEAQLPDPAIEDQGGEYVQPMLSKYAAVCVRCPGYGTRTNTIILVDADGHVTFTERSMMDKDLSHWETRTYEFTLQS*

Gene Symbol:TANGO2
Accession:NM_001322160
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 149
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGHQHTWQAGSTHQLPAAAAGLAGPRARGPHISVPGRRAHACSCGHSICPLPTGELVTHFLTTDVDSLSYLKKVSMEGH
LYNGFNLIAADLSTAKGDVICYYGNRGEPDPIVLTPGTYGLSNALLETPWRKLCFGKQLFLEAVERSQVLPKDVLIASLL
DVLNNEEAAARPGHRGPGWGVRAAHAEQVRGCVRALPWLRHQNQHYHPGRCGRPRDLH*

Gene Symbol:TANGO2
Accession:NM_001322146
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 149
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGHQHTWQAGSTHQLPAAAAGLAGPRARGPHISVPGRRAHACSCGHSICPLPTGELVTHFLTTDVDSLSYLKKVSMEGH
LYNGFNLIAADLSTAKGDVICYYGNRGEPDPIVLTPGTYGLSNALLETPWRKLCFGKQLFLEAVERSQVLPKDVLIASLL
DVLNNEEAQLPDPAIEDQGGEYVQPMLSKYAAVCVRCPGYGTRYCSTVGAPPPIPCPTSHARGPAKKPSAHSQSQASSSP
EWIPELLPCPDAAAGTNTIILVDADGHVTFTERSMMDKDLSHWETRTYEFTLQS*

Gene Symbol:TANGO2
Accession:XM_047441123
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 224
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPPKLLCAGRCVGQDGAAQAWHCPPGQGHSVWDAVRMPLGAGTPVNVQRREDSATEGSHRLILAANRDEFYSRPSKLADF
WGNNNEILSGLDMEEGKEGGTWLGISTRGKLAALTNYLQPQLDWQARGRGELVTHFLTTDVDSLSYLKKVSMEGHLYNGF
NLIAADLSTAKGDVICYYGNRGEPDPIVLTPGTYGLSNALLETPWRKLCFGKQLFLEAVERSQVLPKDVLIASLLDVLNN
EEARPRPSASASLPHWKSPTWACPAAPPSCSCQTRPSRTRVGSTCSPC*

Gene Symbol:TANGO2
Accession:XM_047441127
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 235
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPPKLLCAGRCVGQDGAAQAWHCPPGQGHSVWDAVRMPLGAGTPVNVQRREDSATEGSHRLILAANRDEFYSRPSKLADF
WGNNNEILSGLDMEEGKEGGTWLGISTRGKLAALTNYLQPQLDWQARGRGELVTHFLTTDVDSLSYLKKVSMEGHLYNGF
NLIAADLSTAKGDVICYYGNRGEPDPIVLTPGPLHGPLIAPHRHLRAEQRAAGDSLEEAVLWEAALPGGCGTEPGAAQGC
AHRQPPGCAQQ*

Gene Symbol:TANGO2
Accession:NM_001322167
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 121
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCIIFFKFDPRPVSKNAYRLILAANRDEFYSRPSKLADFWGNNNEILSGLDMEEGKEGGTWLGISTRGKLAALTNYLQPQ
LDWQARGRGTYGLSNALLETPWRKLCFGKQLFLEAVERSQVLPKDVLIASLLDVLNNEEAQLPDPAIEDQGGEYVQPMLS
KYAAVCVRCPGYGTRTNTIILVDADGHVTFTERSMMDKDLSHWETRTYEFTLQS*

Gene Symbol:TANGO2
Accession:XM_047441125
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 235
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPPKLLCAGRCVGQDGAAQAWHCPPGQGHSVWDAVRMPLGAGTPVNVQRREDSATEGSHRLILAANRDEFYSRPSKLADF
WGNNNEILSGLDMEEGKEGGTWLGISTRGKLAALTNYLQPQLDWQARGRGELVTHFLTTDVDSLSYLKKVSMEGHLYNGF
NLIAADLSTAKGDVICYYGNRGEPDPIVLTPGPLHGPLIAPHRHLRAEQRAAGDSLEEAVLWEAALPGGCGTEPGAAQGC
AHRQPPGCAQQ*

Gene Symbol:TANGO2
Accession:XM_047441126
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 235
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPPKLLCAGRCVGQDGAAQAWHCPPGQGHSVWDAVRMPLGAGTPVNVQRREDSATEGSHRLILAANRDEFYSRPSKLADF
WGNNNEILSGLDMEEGKEGGTWLGISTRGKLAALTNYLQPQLDWQARGRGELVTHFLTTDVDSLSYLKKVSMEGHLYNGF
NLIAADLSTAKGDVICYYGNRGEPDPIVLTPGPLHGPLIAPHRHLRAEQRAAGDSLEEAVLWEAALPGGCGTEPGAAQGC
AHRQPPGCAQQ*

Gene Symbol:TANGO2
Accession:XM_047441124
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 183
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCIIFFKFDPRPVSKNAYRLILAANRDEFYSRPSKLADFWGNNNEILSGLDMEEGKEGGTWLGISTRGKLAALTNYLQPQ
LDWQARGRGELVTHFLTTDVDSLSYLKKVSMEGHLYNGFNLIAADLSTAKGDVICYYGNRGEPDPIVLTPGTYGLSNALL
ETPWRKLCFGKQLFLEAVERSQVLPKDVLIASLLDVLNNEEAQLPDPAIEDQGGEYVQPMLSKYAAVCVRCPGYGTRTNT
IILVDADGHVTFTERSMMDKDLSHWETRTYEFTLQS*

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

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

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

Gene Symbol:TANGO2
Accession:XM_047441129
Location:INTRON

Gene Symbol:TANGO2
Accession:XM_047441131
Location:INTRON

Gene Symbol:TANGO2
Accession:NM_001283199
Location:INTRON

Gene Symbol:TANGO2
Accession:NM_001283248
Location:INTRON

Gene Symbol:TANGO2
Accession:XM_047441130
Location:INTRON

Gene Symbol:TANGO2
Accession:NM_001283215
Location:INTRON

Gene Symbol:TANGO2
Accession:NM_001322149
Location:INTRON

Gene Symbol:TANGO2
Accession:XM_047441122
Location:INTRON

Gene Symbol:TANGO2
Accession:XM_047441132
Location:INTRON

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

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001942716 CLINVAR
  RCV002550356 CLINVAR
dbSNP (RS) rs377447080 CLINVAR
MedGen C0950123 CLINVAR
  C3661900 CLINVAR
NCBI Gene TANGO2 CLINVAR
OMIM 616830 CLINVAR