Canonical Allele Identifier: CA2658943517
Gene: MSH2 HGNC NCBI

Linked Data

gnomAD v4: 2-47402979-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47402979A>G , CM000664.2:g.47402979A>G GRCh38
NC_000002.11:g.47630118A>G , CM000664.1:g.47630118A>G GRCh37
NC_000002.10:g.47483622A>G NCBI36
NG_007110.2:g.4856A>G , LRG_218:g.4856A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000233146.6:c.-213A>G ENSP00000233146.2:n.-213A>G