Canonical Allele Identifier: CA197076887

Gene: GABBR2

Linked Data

• dbSNP Id: rs374521037
• MyVariant Identifiers: chr9:g.101303906C>A (hg19) ; chr9:g.98541624C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.98541624C>A , CM000671.2:g.98541624C>A	GRCh38
NC_000009.11:g.101303906C>A , CM000671.1:g.101303906C>A	GRCh37
NC_000009.10:g.100343727C>A	NCBI36
NG_016426.1:g.172574G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259455.4:c.630+249G>T MANE Select	ENSP00000259455.2:n.630+249G>T
ENST00000637410.1:n.408+249G>T
ENST00000259455.3:c.630+249G>T	ENSP00000259455.2:n.630+249G>T
ENST00000477471.1:n.417+249G>T
ENST00000634227.1:n.404+249G>T
NM_005458.7:c.630+249G>T	NP_005449.5:n.630+249G>T
XM_017015331.2:c.336+249G>T	XP_016870820.1:n.336+249G>T
NM_005458.8:c.630+249G>T MANE Select	NP_005449.5:n.630+249G>T