Canonical Allele Identifier: CA2580066675
Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1744639
ClinVar RCV Id: RCV002342989
gnomAD v4: 2-47403074-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47403074T>G , CM000664.2:g.47403074T>G GRCh38
NC_000002.11:g.47630213T>G , CM000664.1:g.47630213T>G GRCh37
NC_000002.10:g.47483717T>G NCBI36
NG_007110.2:g.4951T>G , LRG_218:g.4951T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000543555.6:c.-132T>G ENSP00000442697.1:n.-132T>G
ENST00000233146.6:c.-118T>G ENSP00000233146.2:n.-118T>G
ENST00000454849.5:c.-132T>G ENSP00000411482.1:n.-132T>G
ENST00000543555.5:c.-132T>G ENSP00000442697.1:n.-132T>G
NM_000251.2:c.-118T>G , LRG_218t1:c.-118T>G NP_000242.1:n.-118T>G
NM_001258281.1:c.-132T>G NP_001245210.1:n.-132T>G
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