Canonical Allele Identifier: CA414410273
Gene: GLUD2 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.120182283A>G (hg19) chrX:g.121048429A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.121048429A>G , CM000685.2:g.121048429A>G GRCh38
NC_000023.10:g.120182283A>G , CM000685.1:g.120182283A>G GRCh37
NC_000023.9:g.120009964A>G NCBI36
NG_016456.1:g.5822A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000328078.3:c.745A>G MANE Select ENSP00000327589.1:p.Ile249Val
ENST00000328078.2:c.745A>G ENSP00000327589.1:p.Ile249Val
NM_012084.3:c.745A>G NP_036216.2:p.Ile249Val
NM_012084.4:c.745A>G MANE Select NP_036216.2:p.Ile249Val
Search 100 bp 5'
Search 100 bp 3'