Canonical Allele Identifier: CA1046889049

Gene: EPM2AIP1

Linked Data

• dbSNP Id: rs1245380828
• gnomAD v3: 3-36993202-C-G
• gnomAD v4: 3-36993202-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.36993202C>G , CM000665.2:g.36993202C>G	GRCh38
NC_000003.11:g.37034693C>G , CM000665.1:g.37034693C>G	GRCh37
NC_000003.10:g.37009697C>G	NCBI36
NG_007109.2:g.4853C>G , LRG_216:g.4853C>G
NG_008418.1:g.5103G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_014805.3:c.-125G>C	NP_055620.1:n.-125G>C