Canonical Allele Identifier: CA2580066687
Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1767908
ClinVar RCV Id: RCV002387021
dbSNP Id: rs56062561
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47403096G>C , CM000664.2:g.47403096G>C GRCh38
NC_000002.11:g.47630235G>C , CM000664.1:g.47630235G>C GRCh37
NC_000002.10:g.47483739G>C NCBI36
NG_007110.2:g.4973G>C , LRG_218:g.4973G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000543555.6:c.-110G>C ENSP00000442697.1:n.-110G>C
ENST00000233146.6:c.-96G>C ENSP00000233146.2:n.-96G>C
ENST00000454849.5:c.-110G>C ENSP00000411482.1:n.-110G>C
ENST00000543555.5:c.-110G>C ENSP00000442697.1:n.-110G>C
NM_000251.2:c.-96G>C , LRG_218t1:c.-96G>C NP_000242.1:n.-96G>C
NM_001258281.1:c.-110G>C NP_001245210.1:n.-110G>C
Search 100 bp 5'
Search 100 bp 3'