Canonical Allele Identifier: CA374350877
Gene: GABBR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98541893C>A , CM000671.2:g.98541893C>A GRCh38
NC_000009.11:g.101304175C>A , CM000671.1:g.101304175C>A GRCh37
NC_000009.10:g.100343996C>A NCBI36
NG_016426.1:g.172305G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000259455.4:c.610G>T MANE Select ENSP00000259455.2:p.Asp204Tyr
ENST00000637410.1:n.388G>T
ENST00000637717.1:c.226G>T ENSP00000490789.1:p.Asp76Tyr
ENST00000259455.3:c.610G>T ENSP00000259455.2:p.Asp204Tyr
ENST00000477471.1:n.397G>T
ENST00000634227.1:n.384G>T
NM_005458.7:c.610G>T NP_005449.5:p.Asp204Tyr
XM_017015331.2:c.316G>T XP_016870820.1:p.Asp106Tyr
NM_005458.8:c.610G>T MANE Select NP_005449.5:p.Asp204Tyr