Canonical Allele Identifier: CA017167
Gene: MSH2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 90528
dbSNP Id: rs267607943

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47429740A>C , CM000664.2:g.47429740A>C GRCh38
NC_000002.10:g.47510383A>C NCBI36
NC_000002.11:g.47656879A>C , CM000664.1:g.47656879A>C GRCh37
NG_007110.2:g.31617A>C , LRG_218:g.31617A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000233146.6:c.1077-2A>C ENSP00000233146.2:p.=
ENST00000406134.5:c.1077-2A>C ENSP00000384199.1:p.=
ENST00000543555.5:c.879-2A>C ENSP00000442697.1:p.=
ENST00000610696.4:c.1077-2A>C ENSP00000483159.1:p.=
ENST00000613514.4:c.1077-2A>C ENSP00000484137.1:p.=
ENST00000617333.3:c.1077-2A>C ENSP00000482468.1:p.=
ENST00000617938.4:c.*49-2A>C ENSP00000481158.1:p.=
ENST00000621359.2:c.1077-2A>C ENSP00000481416.1:p.=
NM_000251.2:c.1077-2A>C , LRG_218t1:c.1077-2A>C NP_000242.1:p.=
NM_001258281.1:c.879-2A>C NP_001245210.1:p.=
XM_005264332.2:c.1077-2A>C XP_005264389.2:p.=
XM_011532867.1:c.1077-2A>C XP_011531169.1:p.=
XR_939685.1:n.1149-2A>C