Canonical Allele Identifier: CA769443110
Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1784542
ClinVar RCV Id: RCV002419571
dbSNP Id: rs1475183179
gnomAD v3: 2-47402991-T-C
gnomAD v4: 2-47402991-T-C
MyVariant Identifiers: chr2:g.47630130T>C (hg19) chr2:g.47402991T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47402991T>C , CM000664.2:g.47402991T>C GRCh38
NC_000002.11:g.47630130T>C , CM000664.1:g.47630130T>C GRCh37
NC_000002.10:g.47483634T>C NCBI36
NG_007110.2:g.4868T>C , LRG_218:g.4868T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000233146.6:c.-201T>C ENSP00000233146.2:n.-201T>C
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