Canonical Allele Identifier: CA259694

Gene: GLUD2

Linked Data

• ClinVar Variation Id: 29936
• ClinVar RCV Id: RCV000022827 ; RCV002251924 ; RCV003974852
• dbSNP Id: rs9697983
• ExAC: X:120183030 T / G
• gnomAD v2: X-120183030-T-G
• gnomAD v3: X-121049176-T-G
• gnomAD v4: X-121049176-T-G
• MyVariant Identifiers: chrX:g.120183030T>G (hg19) ; chrX:g.121049176T>G (hg38)
• PubMed: PMID:19826450

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.121049176T>G , CM000685.2:g.121049176T>G	GRCh38
NC_000023.10:g.120183030T>G , CM000685.1:g.120183030T>G	GRCh37
NC_000023.9:g.120010711T>G	NCBI36
NG_016456.1:g.6569T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328078.3:c.1492T>G MANE Select	ENSP00000327589.1:p.Ser498Ala
ENST00000328078.2:c.1492T>G	ENSP00000327589.1:p.Ser498Ala
NM_012084.3:c.1492T>G	NP_036216.2:p.Ser498Ala
NM_012084.4:c.1492T>G MANE Select	NP_036216.2:p.Ser498Ala