Canonical Allele Identifier: CA2658944061
Gene: MSH2 HGNC NCBI

Linked Data

gnomAD v4: 2-47403100-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47403100C>A , CM000664.2:g.47403100C>A GRCh38
NC_000002.11:g.47630239C>A , CM000664.1:g.47630239C>A GRCh37
NC_000002.10:g.47483743C>A NCBI36
NG_007110.2:g.4977C>A , LRG_218:g.4977C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000543555.6:c.-106C>A ENSP00000442697.1:n.-106C>A
ENST00000233146.6:c.-92C>A ENSP00000233146.2:n.-92C>A
ENST00000454849.5:c.-106C>A ENSP00000411482.1:n.-106C>A
ENST00000543555.5:c.-106C>A ENSP00000442697.1:n.-106C>A
NM_000251.2:c.-92C>A , LRG_218t1:c.-92C>A NP_000242.1:n.-92C>A
NM_001258281.1:c.-106C>A NP_001245210.1:n.-106C>A
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