Canonical Allele Identifier: CA2755860789
Gene: MLH1 HGNC NCBI
EPM2AIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993286C>G , CM000665.2:g.36993286C>G GRCh38
NC_000003.11:g.37034777C>G , CM000665.1:g.37034777C>G GRCh37
NC_000003.10:g.37009781C>G NCBI36
NG_007109.2:g.4937C>G , LRG_216:g.4937C>G
NG_008418.1:g.5019G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000673673.2:c.-262C>G (MLH1) ENSP00000500979.2:n.-262C>G
NM_014805.3:c.-209G>C (EPM2AIP1) NP_055620.1:n.-209G>C