Canonical Allele Identifier: CA1127204988

Gene: GABBR2

Linked Data

• dbSNP Id: rs1827735250
• gnomAD v3: 9-98515283-T-G
• gnomAD v4: 9-98515283-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.98515283T>G , CM000671.2:g.98515283T>G	GRCh38
NC_000009.11:g.101277565T>G , CM000671.1:g.101277565T>G	GRCh37
NC_000009.10:g.100317386T>G	NCBI36
NG_016426.1:g.198915A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259455.4:c.631-18769A>C MANE Select	ENSP00000259455.2:n.631-18769A>C
ENST00000637410.1:n.409-18769A>C
ENST00000259455.3:c.631-18769A>C	ENSP00000259455.2:n.631-18769A>C
ENST00000477471.1:n.418-18769A>C
ENST00000634227.1:n.405-18769A>C
ENST00000634919.1:n.306+711A>C
NM_005458.7:c.631-18769A>C	NP_005449.5:n.631-18769A>C
XM_005252316.3:c.-144-18769A>C	XP_005252373.1:n.-144-18769A>C
XM_005252316.5:c.-144-18769A>C	XP_005252373.1:n.-144-18769A>C
XM_017015331.2:c.337-18769A>C	XP_016870820.1:n.337-18769A>C
NM_005458.8:c.631-18769A>C MANE Select	NP_005449.5:n.631-18769A>C