Canonical Allele Identifier: CA2658943901
Gene: MSH2 HGNC NCBI

Linked Data

gnomAD v4: 2-47403064-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47403064T>C , CM000664.2:g.47403064T>C GRCh38
NC_000002.11:g.47630203T>C , CM000664.1:g.47630203T>C GRCh37
NC_000002.10:g.47483707T>C NCBI36
NG_007110.2:g.4941T>C , LRG_218:g.4941T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000233146.6:c.-128T>C ENSP00000233146.2:n.-128T>C