Canonical Allele Identifier: CA374350899
Gene: GABBR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98541904G>C , CM000671.2:g.98541904G>C GRCh38
NC_000009.11:g.101304186G>C , CM000671.1:g.101304186G>C GRCh37
NC_000009.10:g.100344007G>C NCBI36
NG_016426.1:g.172294C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000259455.4:c.599C>G MANE Select ENSP00000259455.2:p.Thr200Arg
ENST00000637410.1:n.377C>G
ENST00000637717.1:c.215C>G ENSP00000490789.1:p.Thr72Arg
ENST00000259455.3:c.599C>G ENSP00000259455.2:p.Thr200Arg
ENST00000477471.1:n.386C>G
ENST00000634227.1:n.373C>G
NM_005458.7:c.599C>G NP_005449.5:p.Thr200Arg
XM_017015331.2:c.305C>G XP_016870820.1:p.Thr102Arg
NM_005458.8:c.599C>G MANE Select NP_005449.5:p.Thr200Arg