Canonical Allele Identifier: CA2580069293
Gene: MLH1 HGNC NCBI
EPM2AIP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1794532
ClinVar RCV Id: RCV002428792
gnomAD v4: 3-36993282-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993282A>G , CM000665.2:g.36993282A>G GRCh38
NC_000003.11:g.37034773A>G , CM000665.1:g.37034773A>G GRCh37
NC_000003.10:g.37009777A>G NCBI36
NG_007109.2:g.4933A>G , LRG_216:g.4933A>G
NG_008418.1:g.5023T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000673673.2:c.-266A>G (MLH1) ENSP00000500979.2:n.-266A>G
NM_014805.3:c.-205T>C (EPM2AIP1) NP_055620.1:n.-205T>C