Canonical Allele Identifier: CA374350933
Gene: GABBR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98541919C>G , CM000671.2:g.98541919C>G GRCh38
NC_000009.11:g.101304201C>G , CM000671.1:g.101304201C>G GRCh37
NC_000009.10:g.100344022C>G NCBI36
NG_016426.1:g.172279G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000259455.4:c.584G>C MANE Select ENSP00000259455.2:p.Trp195Ser
ENST00000637410.1:n.362G>C
ENST00000637717.1:c.200G>C ENSP00000490789.1:p.Trp67Ser
ENST00000259455.3:c.584G>C ENSP00000259455.2:p.Trp195Ser
ENST00000477471.1:n.371G>C
ENST00000634227.1:n.358G>C
NM_005458.7:c.584G>C NP_005449.5:p.Trp195Ser
XM_017015331.2:c.290G>C XP_016870820.1:p.Trp97Ser
NM_005458.8:c.584G>C MANE Select NP_005449.5:p.Trp195Ser