Canonical Allele Identifier: CA022252
Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 90494
ClinVar RCV Id: RCV000075989
dbSNP Id: rs587779182
MyVariant Identifiers: chr2:g.47630253_47630254del (hg19) chr2:g.47403114_47403115del (hg38)
PubMed: PMID:17894833
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47403114_47403115del , CM000664.2:g.47403114_47403115del GRCh38
NC_000002.11:g.47630253_47630254del , CM000664.1:g.47630253_47630254del GRCh37
NC_000002.10:g.47483757_47483758del NCBI36
NG_007110.2:g.4991_4992del , LRG_218:g.4991_4992del

Transcript Alleles

HGVS Amino-acid change
ENST00000543555.6:c.-92_-91del ENSP00000442697.1:n.-92_-91del
ENST00000233146.6:c.-78_-77del ENSP00000233146.2:n.-78_-77del
ENST00000454849.5:c.-92_-91del ENSP00000411482.1:n.-92_-91del
ENST00000543555.5:c.-92_-91del ENSP00000442697.1:n.-92_-91del
NM_000251.2:c.-78_-77del , LRG_218t1:c.-78_-77del NP_000242.1:n.-78_-77del
NM_001258281.1:c.-92_-91del NP_001245210.1:n.-92_-91del
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