Canonical Allele Identifier: CA1139770410
Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1783064
ClinVar RCV Id: RCV002413191
dbSNP Id: rs786202882
gnomAD v4: 2-47403086-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47403086G>A , CM000664.2:g.47403086G>A GRCh38
NC_000002.11:g.47630225G>A , CM000664.1:g.47630225G>A GRCh37
NC_000002.10:g.47483729G>A NCBI36
NG_007110.2:g.4963G>A , LRG_218:g.4963G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000543555.6:c.-120G>A ENSP00000442697.1:n.-120G>A
ENST00000233146.6:c.-106G>A ENSP00000233146.2:n.-106G>A
ENST00000454849.5:c.-120G>A ENSP00000411482.1:n.-120G>A
ENST00000543555.5:c.-120G>A ENSP00000442697.1:n.-120G>A
NM_000251.2:c.-106G>A , LRG_218t1:c.-106G>A NP_000242.1:n.-106G>A
NM_001258281.1:c.-120G>A NP_001245210.1:n.-120G>A