Canonical Allele Identifier: CA46665992
Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1774793
ClinVar RCV Id: RCV002403117
dbSNP Id: rs555836136
gnomAD v2: 2-47630178-A-T
gnomAD v3: 2-47403039-A-T
gnomAD v4: 2-47403039-A-T
MyVariant Identifiers: chr2:g.47630178A>T (hg19) chr2:g.47403039A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47403039A>T , CM000664.2:g.47403039A>T GRCh38
NC_000002.11:g.47630178A>T , CM000664.1:g.47630178A>T GRCh37
NC_000002.10:g.47483682A>T NCBI36
NG_007110.2:g.4916A>T , LRG_218:g.4916A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000233146.6:c.-153A>T ENSP00000233146.2:n.-153A>T
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