Canonical Allele Identifier: CA72786033

Gene: EPM2AIP1

Linked Data

• ClinVar Variation Id: 1729383
• ClinVar RCV Id: RCV002324864
• dbSNP Id: rs564460159
• gnomAD v3: 3-36993224-A-G
• gnomAD v4: 3-36993224-A-G
• MyVariant Identifiers: chr3:g.37034715A>G (hg19) ; chr3:g.36993224A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.36993224A>G , CM000665.2:g.36993224A>G	GRCh38
NC_000003.11:g.37034715A>G , CM000665.1:g.37034715A>G	GRCh37
NC_000003.10:g.37009719A>G	NCBI36
NG_007109.2:g.4875A>G , LRG_216:g.4875A>G
NG_008418.1:g.5081T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_014805.3:c.-147T>C	NP_055620.1:n.-147T>C