Canonical Allele Identifier: CA2690937428

Gene: GABBR2

Linked Data

• gnomAD v4: 9-98541779-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.98541779T>C , CM000671.2:g.98541779T>C	GRCh38
NC_000009.11:g.101304061T>C , CM000671.1:g.101304061T>C	GRCh37
NC_000009.10:g.100343882T>C	NCBI36
NG_016426.1:g.172419A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259455.4:c.630+94A>G MANE Select	ENSP00000259455.2:n.630+94A>G
ENST00000637410.1:n.408+94A>G
ENST00000259455.3:c.630+94A>G	ENSP00000259455.2:n.630+94A>G
ENST00000477471.1:n.417+94A>G
ENST00000634227.1:n.404+94A>G
NM_005458.7:c.630+94A>G	NP_005449.5:n.630+94A>G
XM_017015331.2:c.336+94A>G	XP_016870820.1:n.336+94A>G
NM_005458.8:c.630+94A>G MANE Select	NP_005449.5:n.630+94A>G