Canonical Allele Identifier: CA2658943859
Gene: MSH2 HGNC NCBI

Linked Data

dbSNP Id: rs2103859723
gnomAD v4: 2-47403058-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47403058C>T , CM000664.2:g.47403058C>T GRCh38
NC_000002.11:g.47630197C>T , CM000664.1:g.47630197C>T GRCh37
NC_000002.10:g.47483701C>T NCBI36
NG_007110.2:g.4935C>T , LRG_218:g.4935C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000233146.6:c.-134C>T ENSP00000233146.2:n.-134C>T