Canonical Allele Identifier: CA021905
Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 187297
ClinVar RCV Id: RCV000167015 RCV001139261
dbSNP Id: rs777285149
gnomAD v3: 2-47403094-C-T
gnomAD v4: 2-47403094-C-T
MyVariant Identifiers: chr2:g.47630233C>T (hg19) chr2:g.47403094C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47403094C>T , CM000664.2:g.47403094C>T GRCh38
NC_000002.11:g.47630233C>T , CM000664.1:g.47630233C>T GRCh37
NC_000002.10:g.47483737C>T NCBI36
NG_007110.2:g.4971C>T , LRG_218:g.4971C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000543555.6:c.-112C>T ENSP00000442697.1:n.-112C>T
ENST00000233146.6:c.-98C>T ENSP00000233146.2:n.-98C>T
ENST00000454849.5:c.-112C>T ENSP00000411482.1:n.-112C>T
ENST00000543555.5:c.-112C>T ENSP00000442697.1:n.-112C>T
NM_000251.2:c.-98C>T , LRG_218t1:c.-98C>T NP_000242.1:n.-98C>T
NM_001258281.1:c.-112C>T NP_001245210.1:n.-112C>T
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