Canonical Allele Identifier: CA197074123

Gene: GABBR2

Linked Data

• dbSNP Id: rs376422490
• gnomAD v2: 9-101277632-G-A
• gnomAD v3: 9-98515350-G-A
• gnomAD v4: 9-98515350-G-A
• MyVariant Identifiers: chr9:g.101277632G>A (hg19) ; chr9:g.98515350G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.98515350G>A , CM000671.2:g.98515350G>A	GRCh38
NC_000009.11:g.101277632G>A , CM000671.1:g.101277632G>A	GRCh37
NC_000009.10:g.100317453G>A	NCBI36
NG_016426.1:g.198848C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000259455.4:c.631-18836C>T MANE Select	ENSP00000259455.2:n.631-18836C>T
ENST00000637410.1:n.409-18836C>T
ENST00000259455.3:c.631-18836C>T	ENSP00000259455.2:n.631-18836C>T
ENST00000477471.1:n.418-18836C>T
ENST00000634227.1:n.405-18836C>T
ENST00000634919.1:n.306+644C>T
NM_005458.7:c.631-18836C>T	NP_005449.5:n.631-18836C>T
XM_005252316.3:c.-144-18836C>T	XP_005252373.1:n.-144-18836C>T
XM_005252316.5:c.-144-18836C>T	XP_005252373.1:n.-144-18836C>T
XM_017015331.2:c.337-18836C>T	XP_016870820.1:n.337-18836C>T
NM_005458.8:c.631-18836C>T MANE Select	NP_005449.5:n.631-18836C>T