Canonical Allele Identifier: CA2580069292
Gene: MLH1 HGNC NCBI
EPM2AIP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1794883
ClinVar RCV Id: RCV002453210
gnomAD v4: 3-36993279-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993279C>T , CM000665.2:g.36993279C>T GRCh38
NC_000003.11:g.37034770C>T , CM000665.1:g.37034770C>T GRCh37
NC_000003.10:g.37009774C>T NCBI36
NG_007109.2:g.4930C>T , LRG_216:g.4930C>T
NG_008418.1:g.5026G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000673673.2:c.-269C>T (MLH1) ENSP00000500979.2:n.-269C>T
NM_014805.3:c.-202G>A (EPM2AIP1) NP_055620.1:n.-202G>A
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