Canonical Allele Identifier: CA2580069278

Gene: EPM2AIP1

Linked Data

• ClinVar Variation Id: 1729706
• ClinVar RCV Id: RCV002325056

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.36993221C>G , CM000665.2:g.36993221C>G	GRCh38
NC_000003.11:g.37034712C>G , CM000665.1:g.37034712C>G	GRCh37
NC_000003.10:g.37009716C>G	NCBI36
NG_007109.2:g.4872C>G , LRG_216:g.4872C>G
NG_008418.1:g.5084G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_014805.3:c.-144G>C	NP_055620.1:n.-144G>C