Canonical Allele Identifier: CA374351100
Gene: GABBR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98541992A>C , CM000671.2:g.98541992A>C GRCh38
NC_000009.11:g.101304274A>C , CM000671.1:g.101304274A>C GRCh37
NC_000009.10:g.100344095A>C NCBI36
NG_016426.1:g.172206T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000259455.4:c.511T>G MANE Select ENSP00000259455.2:p.Tyr171Asp
ENST00000637410.1:n.289T>G
ENST00000637717.1:c.127T>G ENSP00000490789.1:p.Tyr43Asp
ENST00000259455.3:c.511T>G ENSP00000259455.2:p.Tyr171Asp
ENST00000477471.1:n.298T>G
ENST00000634227.1:n.285T>G
NM_005458.7:c.511T>G NP_005449.5:p.Tyr171Asp
XM_017015331.2:c.217T>G XP_016870820.1:p.Tyr73Asp
NM_005458.8:c.511T>G MANE Select NP_005449.5:p.Tyr171Asp