Canonical Allele Identifier: CA374350854
Gene: GABBR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98541883C>A , CM000671.2:g.98541883C>A GRCh38
NC_000009.11:g.101304165C>A , CM000671.1:g.101304165C>A GRCh37
NC_000009.10:g.100343986C>A NCBI36
NG_016426.1:g.172315G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000259455.4:c.620G>T MANE Select ENSP00000259455.2:p.Arg207Met
ENST00000637410.1:n.398G>T
ENST00000259455.3:c.620G>T ENSP00000259455.2:p.Arg207Met
ENST00000477471.1:n.407G>T
ENST00000634227.1:n.394G>T
NM_005458.7:c.620G>T NP_005449.5:p.Arg207Met
XM_017015331.2:c.326G>T XP_016870820.1:p.Arg109Met
NM_005458.8:c.620G>T MANE Select NP_005449.5:p.Arg207Met