Canonical Allele Identifier: CA414410292
Gene: GLUD2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.121048438C>A , CM000685.2:g.121048438C>A GRCh38
NC_000023.10:g.120182292C>A , CM000685.1:g.120182292C>A GRCh37
NC_000023.9:g.120009973C>A NCBI36
NG_016456.1:g.5831C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000328078.3:c.754C>A MANE Select ENSP00000327589.1:p.His252Asn
ENST00000328078.2:c.754C>A ENSP00000327589.1:p.His252Asn
NM_012084.3:c.754C>A NP_036216.2:p.His252Asn
NM_012084.4:c.754C>A MANE Select NP_036216.2:p.His252Asn