Canonical Allele Identifier: CA374351136
Gene: GABBR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98542006T>G , CM000671.2:g.98542006T>G GRCh38
NC_000009.11:g.101304288T>G , CM000671.1:g.101304288T>G GRCh37
NC_000009.10:g.100344109T>G NCBI36
NG_016426.1:g.172192A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000259455.4:c.497A>C MANE Select ENSP00000259455.2:p.Lys166Thr
ENST00000637410.1:n.275A>C
ENST00000637717.1:c.113A>C ENSP00000490789.1:p.Lys38Thr
ENST00000259455.3:c.497A>C ENSP00000259455.2:p.Lys166Thr
ENST00000477471.1:n.284A>C
ENST00000634227.1:n.271A>C
NM_005458.7:c.497A>C NP_005449.5:p.Lys166Thr
XM_017015331.2:c.203A>C XP_016870820.1:p.Lys68Thr
NM_005458.8:c.497A>C MANE Select NP_005449.5:p.Lys166Thr