Canonical Allele Identifier: CA2658943937
Gene: MSH2 HGNC NCBI

Linked Data

gnomAD v4: 2-47403070-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47403070C>A , CM000664.2:g.47403070C>A GRCh38
NC_000002.11:g.47630209C>A , CM000664.1:g.47630209C>A GRCh37
NC_000002.10:g.47483713C>A NCBI36
NG_007110.2:g.4947C>A , LRG_218:g.4947C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000543555.6:c.-136C>A ENSP00000442697.1:n.-136C>A
ENST00000233146.6:c.-122C>A ENSP00000233146.2:n.-122C>A
ENST00000454849.5:c.-136C>A ENSP00000411482.1:n.-136C>A
ENST00000543555.5:c.-136C>A ENSP00000442697.1:n.-136C>A
NM_000251.2:c.-122C>A , LRG_218t1:c.-122C>A NP_000242.1:n.-122C>A
NM_001258281.1:c.-136C>A NP_001245210.1:n.-136C>A
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