Canonical Allele Identifier: CA518461280
Gene: GLUD2 HGNC NCBI

Linked Data

dbSNP Id: rs1244728068

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.121048440C>T , CM000685.2:g.121048440C>T GRCh38
NC_000023.10:g.120182294C>T , CM000685.1:g.120182294C>T GRCh37
NC_000023.9:g.120009975C>T NCBI36
NG_016456.1:g.5833C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000328078.3:c.756C>T MANE Select ENSP00000327589.1:p.His252=
ENST00000328078.2:c.756C>T ENSP00000327589.1:p.His252=
NM_012084.3:c.756C>T NP_036216.2:p.His252=
NM_012084.4:c.756C>T MANE Select NP_036216.2:p.His252=