Canonical Allele Identifier: CA374351093
Gene: GABBR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98541989A>G , CM000671.2:g.98541989A>G GRCh38
NC_000009.11:g.101304271A>G , CM000671.1:g.101304271A>G GRCh37
NC_000009.10:g.100344092A>G NCBI36
NG_016426.1:g.172209T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000259455.4:c.514T>C MANE Select ENSP00000259455.2:p.Phe172Leu
ENST00000637410.1:n.292T>C
ENST00000637717.1:c.130T>C ENSP00000490789.1:p.Phe44Leu
ENST00000259455.3:c.514T>C ENSP00000259455.2:p.Phe172Leu
ENST00000477471.1:n.301T>C
ENST00000634227.1:n.288T>C
NM_005458.7:c.514T>C NP_005449.5:p.Phe172Leu
XM_017015331.2:c.220T>C XP_016870820.1:p.Phe74Leu
NM_005458.8:c.514T>C MANE Select NP_005449.5:p.Phe172Leu