Canonical Allele Identifier: CA1030266256
Gene: MSH2 HGNC NCBI

Linked Data

dbSNP Id: rs1672208646
gnomAD v3: 2-47402997-G-A
gnomAD v4: 2-47402997-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47402997G>A , CM000664.2:g.47402997G>A GRCh38
NC_000002.11:g.47630136G>A , CM000664.1:g.47630136G>A GRCh37
NC_000002.10:g.47483640G>A NCBI36
NG_007110.2:g.4874G>A , LRG_218:g.4874G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000233146.6:c.-195G>A ENSP00000233146.2:n.-195G>A