Canonical Allele Identifier: CA518461293
Gene: GLUD2 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.120182303T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.121048449T>G , CM000685.2:g.121048449T>G GRCh38
NC_000023.10:g.120182303T>G , CM000685.1:g.120182303T>G GRCh37
NC_000023.9:g.120009984T>G NCBI36
NG_016456.1:g.5842T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000328078.3:c.765T>G MANE Select ENSP00000327589.1:p.Val255=
ENST00000328078.2:c.765T>G ENSP00000327589.1:p.Val255=
NM_012084.3:c.765T>G NP_036216.2:p.Val255=
NM_012084.4:c.765T>G MANE Select NP_036216.2:p.Val255=