Canonical Allele Identifier: CA414410296
Gene: GLUD2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.121048439A>G , CM000685.2:g.121048439A>G GRCh38
NC_000023.10:g.120182293A>G , CM000685.1:g.120182293A>G GRCh37
NC_000023.9:g.120009974A>G NCBI36
NG_016456.1:g.5832A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000328078.3:c.755A>G MANE Select ENSP00000327589.1:p.His252Arg
ENST00000328078.2:c.755A>G ENSP00000327589.1:p.His252Arg
NM_012084.3:c.755A>G NP_036216.2:p.His252Arg
NM_012084.4:c.755A>G MANE Select NP_036216.2:p.His252Arg