Canonical Allele Identifier: CA021965
Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 141964
ClinVar RCV Id: RCV000130709
dbSNP Id: rs587782145
gnomAD v2: 2-47630196-G-C
gnomAD v3: 2-47403057-G-C
gnomAD v4: 2-47403057-G-C
MyVariant Identifiers: chr2:g.47630196G>C (hg19) chr2:g.47403057G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47403057G>C , CM000664.2:g.47403057G>C GRCh38
NC_000002.11:g.47630196G>C , CM000664.1:g.47630196G>C GRCh37
NC_000002.10:g.47483700G>C NCBI36
NG_007110.2:g.4934G>C , LRG_218:g.4934G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000233146.6:c.-135G>C ENSP00000233146.2:n.-135G>C
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