Canonical Allele Identifier: CA374351073
Gene: GABBR2 HGNC NCBI

Linked Data

dbSNP Id: rs1588220043

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98541980T>G , CM000671.2:g.98541980T>G GRCh38
NC_000009.11:g.101304262T>G , CM000671.1:g.101304262T>G GRCh37
NC_000009.10:g.100344083T>G NCBI36
NG_016426.1:g.172218A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000259455.4:c.523A>C MANE Select ENSP00000259455.2:p.Thr175Pro
ENST00000637410.1:n.301A>C
ENST00000637717.1:c.139A>C ENSP00000490789.1:p.Thr47Pro
ENST00000259455.3:c.523A>C ENSP00000259455.2:p.Thr175Pro
ENST00000477471.1:n.310A>C
ENST00000634227.1:n.297A>C
NM_005458.7:c.523A>C NP_005449.5:p.Thr175Pro
XM_017015331.2:c.229A>C XP_016870820.1:p.Thr77Pro
NM_005458.8:c.523A>C MANE Select NP_005449.5:p.Thr175Pro