Canonical Allele Identifier: CA2547692270
Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1767160
ClinVar RCV Id: RCV002374121
gnomAD v4: 2-47403098-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47403098C>A , CM000664.2:g.47403098C>A GRCh38
NC_000002.11:g.47630237C>A , CM000664.1:g.47630237C>A GRCh37
NC_000002.10:g.47483741C>A NCBI36
NG_007110.2:g.4975C>A , LRG_218:g.4975C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000543555.6:c.-108C>A ENSP00000442697.1:n.-108C>A
ENST00000233146.6:c.-94C>A ENSP00000233146.2:n.-94C>A
ENST00000454849.5:c.-108C>A ENSP00000411482.1:n.-108C>A
ENST00000543555.5:c.-108C>A ENSP00000442697.1:n.-108C>A
NM_000251.2:c.-94C>A , LRG_218t1:c.-94C>A NP_000242.1:n.-94C>A
NM_001258281.1:c.-108C>A NP_001245210.1:n.-108C>A
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