Canonical Allele Identifier: CA518461277
Gene: GLUD2 HGNC NCBI

Linked Data

dbSNP Id: rs1203955257
gnomAD v2: X-120182291-A-G
gnomAD v4: X-121048437-A-G
MyVariant Identifiers: chrX:g.120182291A>G (hg19) chrX:g.121048437A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.121048437A>G , CM000685.2:g.121048437A>G GRCh38
NC_000023.10:g.120182291A>G , CM000685.1:g.120182291A>G GRCh37
NC_000023.9:g.120009972A>G NCBI36
NG_016456.1:g.5830A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000328078.3:c.753A>G MANE Select ENSP00000327589.1:p.Ala251=
ENST00000328078.2:c.753A>G ENSP00000327589.1:p.Ala251=
NM_012084.3:c.753A>G NP_036216.2:p.Ala251=
NM_012084.4:c.753A>G MANE Select NP_036216.2:p.Ala251=
Search 100 bp 5'
Search 100 bp 3'