Canonical Allele Identifier: CA10577892
Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 229739
ClinVar RCV Id: RCV000222265
dbSNP Id: rs550182227
gnomAD v3: 2-47402979-A-C
gnomAD v4: 2-47402979-A-C
MyVariant Identifiers: chr2:g.47630118A>C (hg19) chr2:g.47402979A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47402979A>C , CM000664.2:g.47402979A>C GRCh38
NC_000002.11:g.47630118A>C , CM000664.1:g.47630118A>C GRCh37
NC_000002.10:g.47483622A>C NCBI36
NG_007110.2:g.4856A>C , LRG_218:g.4856A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000233146.6:c.-213A>C ENSP00000233146.2:n.-213A>C
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