Canonical Allele Identifier: CA10577903
Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 230360
ClinVar RCV Id: RCV000220634
dbSNP Id: rs876658524
MyVariant Identifiers: chr2:g.47630230G>C (hg19) chr2:g.47403091G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47403091G>C , CM000664.2:g.47403091G>C GRCh38
NC_000002.11:g.47630230G>C , CM000664.1:g.47630230G>C GRCh37
NC_000002.10:g.47483734G>C NCBI36
NG_007110.2:g.4968G>C , LRG_218:g.4968G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000543555.6:c.-115G>C ENSP00000442697.1:n.-115G>C
ENST00000233146.6:c.-101G>C ENSP00000233146.2:n.-101G>C
ENST00000454849.5:c.-115G>C ENSP00000411482.1:n.-115G>C
ENST00000543555.5:c.-115G>C ENSP00000442697.1:n.-115G>C
NM_000251.2:c.-101G>C , LRG_218t1:c.-101G>C NP_000242.1:n.-101G>C
NM_001258281.1:c.-115G>C NP_001245210.1:n.-115G>C
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