RGD:156189811 Rat Genome Database

Variant: RGD:156189811 - Homo sapiens

RGD ID:

156189811

ClinVar ID:

CV2356664

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

ARRB2

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	17	4,624,249
GRCh38	17	4,720,954

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_001257331.2:c.1136C>T NM_004313.4:c.1145C>T NM_001257330.2:c.1181C>T NM_001257328.2:c.1208C>T More...	09/17/2021	3 prime utr variant	uncertain significance

Disease Annotations Click to see Annotation Detail View

genetic disease (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	ARRB2
Accession:	NM_001257329
Location:	3UTRS;EXON

Gene Symbol:	ARRB2
Accession:	XM_047436065
Location:	3UTRS;EXON

Gene Symbol:	ARRB2
Accession:	NM_004313
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	382

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGEKPGTRVFKKSSPNCKLTVYLGKRDFVDHLDKVDPVDGVVLVDPDYLKDRKVFVTLTCAFRYGREDLDVLGLSFRKDL FIATYQAFPPVPNPPRPPTRLQDRLLRKLGQHAHPFFFTIPQNLPCSVTLQPGPEDTGKACGVDFEIRAFCAKSLEEKSH KRNSVRLVIRKVQFAPEKPGPQPSAETTRHFLMSDRSLHLEASLDKELYYHGEPLNVNVHVTNNSTKTVKKIKVSVRQYA DICLFSTAQYKCPVAQLEQDDQVSPSSTFCKVYTITPLLSDNREKRGLALDGKLKHEDTNLASSTIVKEGANKEVLGILV SYRVKVKLVVSRGGDVSVELPFVLMHPKPHDHIPLPRPQSAAPETDVPVDTNLIEFDTNYAIDDDIVFEDFARLRLKGMK DDDYDDQLC*

Gene Symbol:	ARRB2
Accession:	NM_001257331
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	379

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGEKPGTRVFKKSSPNCKLTVYLGKRDFVDHLDKVDPVVFVTLTCAFRYGREDLDVLGLSFRKDLFIATYQAFPPVPNPP RPPTRLQDRLLRKLGQHAHPFFFTIPQNLPCSVTLQPGPEDTGKACGVDFEIRAFCAKSLEEKSHKRNSVRLVIRKVQFA PEKPGPQPSAETTRHFLMSDRSLHLEASLDKELYYHGEPLNVNVHVTNNSTKTVKKIKVSVRQYADICLFSTAQYKCPVA QLEQDDQVSPSSTFCKVYTITPLLSDNREKRGLALDGKLKHEDTNLASSTIVKEGANKEVLGILVSYRVKVKLVVSRGGD VSVELPFVLMHPKPHDHIPLPRPQSAPTPTPPLPVPPAAPETDVPVDTNLIEFDTNYAIDDDIVFEDFARLRLKGMKDDD YDDQLC*

Gene Symbol:	ARRB2
Accession:	NM_001330064
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	190

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSDRSLHLEASLDKELYYHGEPLNVNVHVTNNSTKTVKKIKVSVRQYADICLFSTAQYKCPVAQLEQDDQVSPSSTFCKV YTITPLLSDNREKRGLALDGKLKHEDTNLASSTIVKEGANKEVLGILVSYRVKVKLVVSRGGDVSVELPFVLMHPKPHDH IPLPRPQSAAPETDVPVDTNLIEFDTNYAIDDDIVFEDFARLRLKGMKDDDYDDQLC*

Gene Symbol:	ARRB2
Accession:	NM_199004
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	367

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGEKPGTRVFKKSSPNCKLTVYLGKRDFVDHLDKVDPVVFVTLTCAFRYGREDLDVLGLSFRKDLFIATYQAFPPVPNPP RPPTRLQDRLLRKLGQHAHPFFFTIPQNLPCSVTLQPGPEDTGKACGVDFEIRAFCAKSLEEKSHKRNSVRLVIRKVQFA PEKPGPQPSAETTRHFLMSDRSLHLEASLDKELYYHGEPLNVNVHVTNNSTKTVKKIKVSVRQYADICLFSTAQYKCPVA QLEQDDQVSPSSTFCKVYTITPLLSDNREKRGLALDGKLKHEDTNLASSTIVKEGANKEVLGILVSYRVKVKLVVSRGGD VSVELPFVLMHPKPHDHIPLPRPQSAAPETDVPVDTNLIEFDTNYAIDDDIVFEDFARLRLKGMKDDDYDDQLC*

Gene Symbol:	ARRB2
Accession:	XM_024450753
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	202

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSDRSLHLEASLDKELYYHGEPLNVNVHVTNNSTKTVKKIKVSVRQYADICLFSTAQYKCPVAQLEQDDQVSPSSTFCKV YTITPLLSDNREKRGLALDGKLKHEDTNLASSTIVKEGANKEVLGILVSYRVKVKLVVSRGGDVSVELPFVLMHPKPHDH IPLPRPQSAPTPTPPLPVPPAAPETDVPVDTNLIEFDTNYAIDDDIVFEDFARLRLKGMKDDDYDDQLC*

Gene Symbol:	ARRB2
Accession:	XM_047436067
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	190

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSDRSLHLEASLDKELYYHGEPLNVNVHVTNNSTKTVKKIKVSVRQYADICLFSTAQYKCPVAQLEQDDQVSPSSTFCKV YTITPLLSDNREKRGLALDGKLKHEDTNLASSTIVKEGANKEVLGILVSYRVKVKLVVSRGGDVSVELPFVLMHPKPHDH IPLPRPQSAAPETDVPVDTNLIEFDTNYAIDDDIVFEDFARLRLKGMKDDDYDDQLC*

Gene Symbol:	ARRB2
Accession:	XM_047436063
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	202

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSDRSLHLEASLDKELYYHGEPLNVNVHVTNNSTKTVKKIKVSVRQYADICLFSTAQYKCPVAQLEQDDQVSPSSTFCKV YTITPLLSDNREKRGLALDGKLKHEDTNLASSTIVKEGANKEVLGILVSYRVKVKLVVSRGGDVSVELPFVLMHPKPHDH IPLPRPQSAPTPTPPLPVPPAAPETDVPVDTNLIEFDTNYAIDDDIVFEDFARLRLKGMKDDDYDDQLC*

Gene Symbol:	ARRB2
Accession:	XM_024450752
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	202

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSDRSLHLEASLDKELYYHGEPLNVNVHVTNNSTKTVKKIKVSVRQYADICLFSTAQYKCPVAQLEQDDQVSPSSTFCKV YTITPLLSDNREKRGLALDGKLKHEDTNLASSTIVKEGANKEVLGILVSYRVKVKLVVSRGGDVSVELPFVLMHPKPHDH IPLPRPQSAPTPTPPLPVPPAAPETDVPVDTNLIEFDTNYAIDDDIVFEDFARLRLKGMKDDDYDDQLC*

Gene Symbol:	ARRB2
Accession:	XM_047436064
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	190

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSDRSLHLEASLDKELYYHGEPLNVNVHVTNNSTKTVKKIKVSVRQYADICLFSTAQYKCPVAQLEQDDQVSPSSTFCKV YTITPLLSDNREKRGLALDGKLKHEDTNLASSTIVKEGANKEVLGILVSYRVKVKLVVSRGGDVSVELPFVLMHPKPHDH IPLPRPQSAAPETDVPVDTNLIEFDTNYAIDDDIVFEDFARLRLKGMKDDDYDDQLC*

Gene Symbol:	ARRB2
Accession:	NM_001257328
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	403

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGEKPGTRVFKKSSPNCKLTVYLGKRDFVDHLDKVDPVDGVVLVDPDYLKDRKVFVTLTCAFRYGREDLDVLGLSFRKDL FIATYQAFPPVPNPPRPPTRLQDRLLRKLGQHAHPFFFTVRMPLPSEGQGAGAGTVSGVGIPQNLPCSVTLQPGPEDTGK ACGVDFEIRAFCAKSLEEKSHKRNSVRLVIRKVQFAPEKPGPQPSAETTRHFLMSDRSLHLEASLDKELYYHGEPLNVNV HVTNNSTKTVKKIKVSVRQYADICLFSTAQYKCPVAQLEQDDQVSPSSTFCKVYTITPLLSDNREKRGLALDGKLKHEDT NLASSTIVKEGANKEVLGILVSYRVKVKLVVSRGGDVSVELPFVLMHPKPHDHIPLPRPQSAAPETDVPVDTNLIEFDTN YAIDDDIVFEDFARLRLKGMKDDDYDDQLC*

Gene Symbol:	ARRB2
Accession:	XM_047436066
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	202

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSDRSLHLEASLDKELYYHGEPLNVNVHVTNNSTKTVKKIKVSVRQYADICLFSTAQYKCPVAQLEQDDQVSPSSTFCKV YTITPLLSDNREKRGLALDGKLKHEDTNLASSTIVKEGANKEVLGILVSYRVKVKLVVSRGGDVSVELPFVLMHPKPHDH IPLPRPQSAPTPTPPLPVPPAAPETDVPVDTNLIEFDTNYAIDDDIVFEDFARLRLKGMKDDDYDDQLC*

Gene Symbol:	ARRB2
Accession:	XM_017024645
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	202

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSDRSLHLEASLDKELYYHGEPLNVNVHVTNNSTKTVKKIKVSVRQYADICLFSTAQYKCPVAQLEQDDQVSPSSTFCKV YTITPLLSDNREKRGLALDGKLKHEDTNLASSTIVKEGANKEVLGILVSYRVKVKLVVSRGGDVSVELPFVLMHPKPHDH IPLPRPQSAPTPTPPLPVPPAAPETDVPVDTNLIEFDTNYAIDDDIVFEDFARLRLKGMKDDDYDDQLC*

Gene Symbol:	ARRB2
Accession:	XM_047436062
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	202

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSDRSLHLEASLDKELYYHGEPLNVNVHVTNNSTKTVKKIKVSVRQYADICLFSTAQYKCPVAQLEQDDQVSPSSTFCKV YTITPLLSDNREKRGLALDGKLKHEDTNLASSTIVKEGANKEVLGILVSYRVKVKLVVSRGGDVSVELPFVLMHPKPHDH IPLPRPQSAPTPTPPLPVPPAAPETDVPVDTNLIEFDTNYAIDDDIVFEDFARLRLKGMKDDDYDDQLC*

Gene Symbol:	ARRB2
Accession:	XM_011523858
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	413

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGGGSGRGLGRSQTRAQRRGSGGRTPGSLGTAIRGRTRRVFKKSSPNCKLTVYLGKRDFVDHLDKVDPVDGVVLVDPDYL KDRKVFVTLTCAFRYGREDLDVLGLSFRKDLFIATYQAFPPVPNPPRPPTRLQDRLLRKLGQHAHPFFFTIPQNLPCSVT LQPGPEDTGKACGVDFEIRAFCAKSLEEKSHKRNSVRLVIRKVQFAPEKPGPQPSAETTRHFLMSDRSLHLEASLDKELY YHGEPLNVNVHVTNNSTKTVKKIKVSVRQYADICLFSTAQYKCPVAQLEQDDQVSPSSTFCKVYTITPLLSDNREKRGLA LDGKLKHEDTNLASSTIVKEGANKEVLGILVSYRVKVKLVVSRGGDVSVELPFVLMHPKPHDHIPLPRPQSAAPETDVPV DTNLIEFDTNYAIDDDIVFEDFARLRLKGMKDDDYDDQLC*

Gene Symbol:	ARRB2
Accession:	NM_001257330
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	394

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGEKPGTRVFKKSSPNCKLTVYLGKRDFVDHLDKVDPVDGVVLVDPDYLKDRKVFVTLTCAFRYGREDLDVLGLSFRKDL FIATYQAFPPVPNPPRPPTRLQDRLLRKLGQHAHPFFFTIPQNLPCSVTLQPGPEDTGKACGVDFEIRAFCAKSLEEKSH KRNSVRLVIRKVQFAPEKPGPQPSAETTRHFLMSDRSLHLEASLDKELYYHGEPLNVNVHVTNNSTKTVKKIKVSVRQYA DICLFSTAQYKCPVAQLEQDDQVSPSSTFCKVYTITPLLSDNREKRGLALDGKLKHEDTNLASSTIVKEGANKEVLGILV SYRVKVKLVVSRGGDVSVELPFVLMHPKPHDHIPLPRPQSAPTPTPPLPVPPAAPETDVPVDTNLIEFDTNYAIDDDIVF EDFARLRLKGMKDDDYDDQLC*

Gene Symbol:	ARRB2
Accession:	NR_047516
Location:	EXON;NON-CODING

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV002984545	CLINVAR
MedGen	C0950123	CLINVAR
NCBI Gene	ARRB2	CLINVAR
OMIM	107941	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

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)

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

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Variant: RGD:156189811 - Homo sapiens

Imported Disease Annotations - ClinVar