Canonical Allele Identifier: CA374350872
Gene: GABBR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98541891G>T , CM000671.2:g.98541891G>T GRCh38
NC_000009.11:g.101304173G>T , CM000671.1:g.101304173G>T GRCh37
NC_000009.10:g.100343994G>T NCBI36
NG_016426.1:g.172307C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000259455.4:c.612C>A MANE Select ENSP00000259455.2:p.Asp204Glu
ENST00000637410.1:n.390C>A
ENST00000637717.1:c.228C>A ENSP00000490789.1:p.Asp76Glu
ENST00000259455.3:c.612C>A ENSP00000259455.2:p.Asp204Glu
ENST00000477471.1:n.399C>A
ENST00000634227.1:n.386C>A
NM_005458.7:c.612C>A NP_005449.5:p.Asp204Glu
XM_017015331.2:c.318C>A XP_016870820.1:p.Asp106Glu
NM_005458.8:c.612C>A MANE Select NP_005449.5:p.Asp204Glu