Canonical Allele Identifier: CA374350876

Gene: GABBR2

Linked Data

• MyVariant Identifiers: chr9:g.101304174T>G (hg19) ; chr9:g.98541892T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.98541892T>G , CM000671.2:g.98541892T>G	GRCh38
NC_000009.11:g.101304174T>G , CM000671.1:g.101304174T>G	GRCh37
NC_000009.10:g.100343995T>G	NCBI36
NG_016426.1:g.172306A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259455.4:c.611A>C MANE Select	ENSP00000259455.2:p.Asp204Ala
ENST00000637410.1:n.389A>C
ENST00000637717.1:c.227A>C	ENSP00000490789.1:p.Asp76Ala
ENST00000259455.3:c.611A>C	ENSP00000259455.2:p.Asp204Ala
ENST00000477471.1:n.398A>C
ENST00000634227.1:n.385A>C
NM_005458.7:c.611A>C	NP_005449.5:p.Asp204Ala
XM_017015331.2:c.317A>C	XP_016870820.1:p.Asp106Ala
NM_005458.8:c.611A>C MANE Select	NP_005449.5:p.Asp204Ala