Canonical Allele Identifier: CA414410235
Gene: GLUD2 HGNC NCBI

Linked Data

gnomAD v4: X-121048414-A-G
MyVariant Identifiers: chrX:g.120182268A>G (hg19) chrX:g.121048414A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.121048414A>G , CM000685.2:g.121048414A>G GRCh38
NC_000023.10:g.120182268A>G , CM000685.1:g.120182268A>G GRCh37
NC_000023.9:g.120009949A>G NCBI36
NG_016456.1:g.5807A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000328078.3:c.730A>G MANE Select ENSP00000327589.1:p.Ile244Val
ENST00000328078.2:c.730A>G ENSP00000327589.1:p.Ile244Val
NM_012084.3:c.730A>G NP_036216.2:p.Ile244Val
NM_012084.4:c.730A>G MANE Select NP_036216.2:p.Ile244Val
Search 100 bp 5'
Search 100 bp 3'