Canonical Allele Identifier: CA769443352
Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1798331
ClinVar RCV Id: RCV002442145
dbSNP Id: rs876659929
gnomAD v3: 2-47403092-G-T
gnomAD v4: 2-47403092-G-T
MyVariant Identifiers: chr2:g.47630231G>T (hg19) chr2:g.47403092G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47403092G>T , CM000664.2:g.47403092G>T GRCh38
NC_000002.11:g.47630231G>T , CM000664.1:g.47630231G>T GRCh37
NC_000002.10:g.47483735G>T NCBI36
NG_007110.2:g.4969G>T , LRG_218:g.4969G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000543555.6:c.-114G>T ENSP00000442697.1:n.-114G>T
ENST00000233146.6:c.-100G>T ENSP00000233146.2:n.-100G>T
ENST00000454849.5:c.-114G>T ENSP00000411482.1:n.-114G>T
ENST00000543555.5:c.-114G>T ENSP00000442697.1:n.-114G>T
NM_000251.2:c.-100G>T , LRG_218t1:c.-100G>T NP_000242.1:n.-100G>T
NM_001258281.1:c.-114G>T NP_001245210.1:n.-114G>T
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