Canonical Allele Identifier: CA374351158
Gene: GABBR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98542016G>C , CM000671.2:g.98542016G>C GRCh38
NC_000009.11:g.101304298G>C , CM000671.1:g.101304298G>C GRCh37
NC_000009.10:g.100344119G>C NCBI36
NG_016426.1:g.172182C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000259455.4:c.487C>G MANE Select ENSP00000259455.2:p.Leu163Val
ENST00000637410.1:n.265C>G
ENST00000637717.1:c.103C>G ENSP00000490789.1:p.Leu35Val
ENST00000638001.1:n.97C>G
ENST00000259455.3:c.487C>G ENSP00000259455.2:p.Leu163Val
ENST00000477471.1:n.274C>G
ENST00000634227.1:n.261C>G
NM_005458.7:c.487C>G NP_005449.5:p.Leu163Val
XM_017015331.2:c.193C>G XP_016870820.1:p.Leu65Val
NM_005458.8:c.487C>G MANE Select NP_005449.5:p.Leu163Val