Canonical Allele Identifier: CA374350887
Gene: GABBR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98541896G>T , CM000671.2:g.98541896G>T GRCh38
NC_000009.11:g.101304178G>T , CM000671.1:g.101304178G>T GRCh37
NC_000009.10:g.100343999G>T NCBI36
NG_016426.1:g.172302C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000259455.4:c.607C>A MANE Select ENSP00000259455.2:p.Gln203Lys
ENST00000637410.1:n.385C>A
ENST00000637717.1:c.223C>A ENSP00000490789.1:p.Gln75Lys
ENST00000259455.3:c.607C>A ENSP00000259455.2:p.Gln203Lys
ENST00000477471.1:n.394C>A
ENST00000634227.1:n.381C>A
NM_005458.7:c.607C>A NP_005449.5:p.Gln203Lys
XM_017015331.2:c.313C>A XP_016870820.1:p.Gln105Lys
NM_005458.8:c.607C>A MANE Select NP_005449.5:p.Gln203Lys