Canonical Allele Identifier: CA2690937449

Gene: GABBR2

Linked Data

• gnomAD v4: 9-98541821-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.98541821G>A , CM000671.2:g.98541821G>A	GRCh38
NC_000009.11:g.101304103G>A , CM000671.1:g.101304103G>A	GRCh37
NC_000009.10:g.100343924G>A	NCBI36
NG_016426.1:g.172377C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259455.4:c.630+52C>T MANE Select	ENSP00000259455.2:n.630+52C>T
ENST00000637410.1:n.408+52C>T
ENST00000259455.3:c.630+52C>T	ENSP00000259455.2:n.630+52C>T
ENST00000477471.1:n.417+52C>T
ENST00000634227.1:n.404+52C>T
NM_005458.7:c.630+52C>T	NP_005449.5:n.630+52C>T
XM_017015331.2:c.336+52C>T	XP_016870820.1:n.336+52C>T
NM_005458.8:c.630+52C>T MANE Select	NP_005449.5:n.630+52C>T