Canonical Allele Identifier: CA466526989

Gene: GABBR2

Linked Data

• dbSNP Id: rs1588220023
• MyVariant Identifiers: chr9:g.101304236A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.98541954A>G , CM000671.2:g.98541954A>G	GRCh38
NC_000009.11:g.101304236A>G , CM000671.1:g.101304236A>G	GRCh37
NC_000009.10:g.100344057A>G	NCBI36
NG_016426.1:g.172244T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259455.4:c.549T>C MANE Select	ENSP00000259455.2:p.Asn183=
ENST00000637410.1:n.327T>C
ENST00000637717.1:c.165T>C	ENSP00000490789.1:p.Asn55=
ENST00000259455.3:c.549T>C	ENSP00000259455.2:p.Asn183=
ENST00000477471.1:n.336T>C
ENST00000634227.1:n.323T>C
NM_005458.7:c.549T>C	NP_005449.5:p.Asn183=
XM_017015331.2:c.255T>C	XP_016870820.1:p.Asn85=
NM_005458.8:c.549T>C MANE Select	NP_005449.5:p.Asn183=