Canonical Allele Identifier: CA906755254

Gene: EPM2AIP1

Linked Data

• dbSNP Id: rs1250255070
• gnomAD v3: 3-36993187-A-G
• gnomAD v4: 3-36993187-A-G
• MyVariant Identifiers: chr3:g.37034678A>G (hg19) ; chr3:g.36993187A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.36993187A>G , CM000665.2:g.36993187A>G	GRCh38
NC_000003.11:g.37034678A>G , CM000665.1:g.37034678A>G	GRCh37
NC_000003.10:g.37009682A>G	NCBI36
NG_007109.2:g.4838A>G , LRG_216:g.4838A>G
NG_008418.1:g.5118T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_014805.3:c.-110T>C	NP_055620.1:n.-110T>C