Canonical Allele Identifier: CA374350919
Gene: GABBR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98541914G>C , CM000671.2:g.98541914G>C GRCh38
NC_000009.11:g.101304196G>C , CM000671.1:g.101304196G>C GRCh37
NC_000009.10:g.100344017G>C NCBI36
NG_016426.1:g.172284C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000259455.4:c.589C>G MANE Select ENSP00000259455.2:p.Arg197Gly
ENST00000637410.1:n.367C>G
ENST00000637717.1:c.205C>G ENSP00000490789.1:p.Arg69Gly
ENST00000259455.3:c.589C>G ENSP00000259455.2:p.Arg197Gly
ENST00000477471.1:n.376C>G
ENST00000634227.1:n.363C>G
NM_005458.7:c.589C>G NP_005449.5:p.Arg197Gly
XM_017015331.2:c.295C>G XP_016870820.1:p.Arg99Gly
NM_005458.8:c.589C>G MANE Select NP_005449.5:p.Arg197Gly