Canonical Allele Identifier: CA017450
Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 90485
dbSNP Id: rs2303425
gnomAD v2: 2-47630213-T-C
gnomAD v3: 2-47403074-T-C
gnomAD v4: 2-47403074-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47403074T>C , CM000664.2:g.47403074T>C GRCh38
NC_000002.11:g.47630213T>C , CM000664.1:g.47630213T>C GRCh37
NC_000002.10:g.47483717T>C NCBI36
NG_007110.2:g.4951T>C , LRG_218:g.4951T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000543555.6:c.-132T>C ENSP00000442697.1:n.-132T>C
ENST00000233146.6:c.-118T>C ENSP00000233146.2:n.-118T>C
ENST00000454849.5:c.-132T>C ENSP00000411482.1:n.-132T>C
ENST00000543555.5:c.-132T>C ENSP00000442697.1:n.-132T>C
NM_000251.2:c.-118T>C , LRG_218t1:c.-118T>C NP_000242.1:n.-118T>C
NM_001258281.1:c.-132T>C NP_001245210.1:n.-132T>C