Canonical Allele Identifier: CA186222
Gene: MLH1 HGNC NCBI
EPM2AIP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 89588
ClinVar RCV Id: RCV001518391 RCV002292467
dbSNP Id: rs35032294
gnomAD v2: 3-37034770-C-G
gnomAD v3: 3-36993279-C-G
gnomAD v4: 3-36993279-C-G
MyVariant Identifiers: chr3:g.37034770C>G (hg19) chr3:g.36993279C>G (hg38)
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Genomic Alleles

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

Transcript Alleles

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