Canonical Allele Identifier: CA2690937417

Gene: GABBR2

Linked Data

• gnomAD v4: 9-98541766-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.98541766C>A , CM000671.2:g.98541766C>A	GRCh38
NC_000009.11:g.101304048C>A , CM000671.1:g.101304048C>A	GRCh37
NC_000009.10:g.100343869C>A	NCBI36
NG_016426.1:g.172432G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259455.4:c.630+107G>T MANE Select	ENSP00000259455.2:n.630+107G>T
ENST00000637410.1:n.408+107G>T
ENST00000259455.3:c.630+107G>T	ENSP00000259455.2:n.630+107G>T
ENST00000477471.1:n.417+107G>T
ENST00000634227.1:n.404+107G>T
NM_005458.7:c.630+107G>T	NP_005449.5:n.630+107G>T
XM_017015331.2:c.336+107G>T	XP_016870820.1:n.336+107G>T
NM_005458.8:c.630+107G>T MANE Select	NP_005449.5:n.630+107G>T