Canonical Allele Identifier: CA197074107

Gene: GABBR2

Linked Data

• dbSNP Id: rs538173061
• gnomAD v2: 9-101277520-G-T
• gnomAD v3: 9-98515238-G-T
• gnomAD v4: 9-98515238-G-T
• MyVariant Identifiers: chr9:g.101277520G>T (hg19) ; chr9:g.98515238G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.98515238G>T , CM000671.2:g.98515238G>T	GRCh38
NC_000009.11:g.101277520G>T , CM000671.1:g.101277520G>T	GRCh37
NC_000009.10:g.100317341G>T	NCBI36
NG_016426.1:g.198960C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259455.4:c.631-18724C>A MANE Select	ENSP00000259455.2:n.631-18724C>A
ENST00000637410.1:n.409-18724C>A
ENST00000259455.3:c.631-18724C>A	ENSP00000259455.2:n.631-18724C>A
ENST00000477471.1:n.418-18724C>A
ENST00000634227.1:n.405-18724C>A
ENST00000634919.1:n.306+756C>A
NM_005458.7:c.631-18724C>A	NP_005449.5:n.631-18724C>A
XM_005252316.3:c.-144-18724C>A	XP_005252373.1:n.-144-18724C>A
XM_005252316.5:c.-144-18724C>A	XP_005252373.1:n.-144-18724C>A
XM_017015331.2:c.337-18724C>A	XP_016870820.1:n.337-18724C>A
NM_005458.8:c.631-18724C>A MANE Select	NP_005449.5:n.631-18724C>A