Canonical Allele Identifier: CA2658943972
Gene: MSH2 HGNC NCBI

Linked Data

gnomAD v4: 2-47403087-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47403087C>A , CM000664.2:g.47403087C>A GRCh38
NC_000002.11:g.47630226C>A , CM000664.1:g.47630226C>A GRCh37
NC_000002.10:g.47483730C>A NCBI36
NG_007110.2:g.4964C>A , LRG_218:g.4964C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000543555.6:c.-119C>A ENSP00000442697.1:n.-119C>A
ENST00000233146.6:c.-105C>A ENSP00000233146.2:n.-105C>A
ENST00000454849.5:c.-119C>A ENSP00000411482.1:n.-119C>A
ENST00000543555.5:c.-119C>A ENSP00000442697.1:n.-119C>A
NM_000251.2:c.-105C>A , LRG_218t1:c.-105C>A NP_000242.1:n.-105C>A
NM_001258281.1:c.-119C>A NP_001245210.1:n.-119C>A