Canonical Allele Identifier: CA466526980
Gene: GABBR2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.101304226G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98541944G>A , CM000671.2:g.98541944G>A GRCh38
NC_000009.11:g.101304226G>A , CM000671.1:g.101304226G>A GRCh37
NC_000009.10:g.100344047G>A NCBI36
NG_016426.1:g.172254C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000259455.4:c.559C>T MANE Select ENSP00000259455.2:p.Leu187=
ENST00000637410.1:n.337C>T
ENST00000637717.1:c.175C>T ENSP00000490789.1:p.Leu59=
ENST00000259455.3:c.559C>T ENSP00000259455.2:p.Leu187=
ENST00000477471.1:n.346C>T
ENST00000634227.1:n.333C>T
NM_005458.7:c.559C>T NP_005449.5:p.Leu187=
XM_017015331.2:c.265C>T XP_016870820.1:p.Leu89=
NM_005458.8:c.559C>T MANE Select NP_005449.5:p.Leu187=