Canonical Allele Identifier: CA466526993
Gene: GABBR2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.101304242C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98541960C>A , CM000671.2:g.98541960C>A GRCh38
NC_000009.11:g.101304242C>A , CM000671.1:g.101304242C>A GRCh37
NC_000009.10:g.100344063C>A NCBI36
NG_016426.1:g.172238G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000259455.4:c.543G>T MANE Select ENSP00000259455.2:p.Ala181=
ENST00000637410.1:n.321G>T
ENST00000637717.1:c.159G>T ENSP00000490789.1:p.Ala53=
ENST00000259455.3:c.543G>T ENSP00000259455.2:p.Ala181=
ENST00000477471.1:n.330G>T
ENST00000634227.1:n.317G>T
NM_005458.7:c.543G>T NP_005449.5:p.Ala181=
XM_017015331.2:c.249G>T XP_016870820.1:p.Ala83=
NM_005458.8:c.543G>T MANE Select NP_005449.5:p.Ala181=