Canonical Allele Identifier: CA374350914

Gene: GABBR2

Linked Data

• MyVariant Identifiers: chr9:g.101304193C>G (hg19) ; chr9:g.98541911C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.98541911C>G , CM000671.2:g.98541911C>G	GRCh38
NC_000009.11:g.101304193C>G , CM000671.1:g.101304193C>G	GRCh37
NC_000009.10:g.100344014C>G	NCBI36
NG_016426.1:g.172287G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259455.4:c.592G>C MANE Select	ENSP00000259455.2:p.Val198Leu
ENST00000637410.1:n.370G>C
ENST00000637717.1:c.208G>C	ENSP00000490789.1:p.Val70Leu
ENST00000259455.3:c.592G>C	ENSP00000259455.2:p.Val198Leu
ENST00000477471.1:n.379G>C
ENST00000634227.1:n.366G>C
NM_005458.7:c.592G>C	NP_005449.5:p.Val198Leu
XM_017015331.2:c.298G>C	XP_016870820.1:p.Val100Leu
NM_005458.8:c.592G>C MANE Select	NP_005449.5:p.Val198Leu