Canonical Allele Identifier: CA017468
Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 90562
ClinVar RCV Id: RCV000076058
dbSNP Id: rs63749850

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47429861_47429862dup , CM000664.2:g.47429861_47429862dup GRCh38
NC_000002.11:g.47657000_47657001dup , CM000664.1:g.47657000_47657001dup GRCh37
NC_000002.10:g.47510504_47510505dup NCBI36
NG_007110.2:g.31738_31739dup , LRG_218:g.31738_31739dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000644900.2:c.1196_1197dup ENSP00000495641.2:p.Asn400GlnfsTer13
ENST00000233146.7:c.1196_1197dup MANE Select ENSP00000233146.2:p.Asn400GlnfsTer13
ENST00000543555.6:c.998_999dup ENSP00000442697.1:p.Asn334GlnfsTer13
ENST00000644092.1:c.1196_1197dup ENSP00000496351.1:p.Asn400GlnfsTer13
ENST00000645339.1:c.1196_1197dup ENSP00000496441.1:p.Asn400GlnfsTer13
ENST00000645506.1:c.1196_1197dup ENSP00000495455.1:p.Asn400GlnfsTer13
ENST00000646415.1:c.1196_1197dup ENSP00000495543.1:p.Asn400GlnfsTer13
ENST00000233146.6:c.1196_1197dup ENSP00000233146.2:p.Asn400GlnfsTer13
ENST00000406134.5:c.1196_1197dup ENSP00000384199.1:p.Asn400GlnfsTer13
ENST00000543555.5:c.998_999dup ENSP00000442697.1:p.Asn334GlnfsTer13
ENST00000610696.4:c.1196_1197dup ENSP00000483159.1:p.Asn400GlnfsTer13
ENST00000613514.4:c.1196_1197dup ENSP00000484137.1:p.Asn400GlnfsTer13
ENST00000617333.3:c.1195_1196dup ENSP00000482468.1:p.Gln399HisfsTer18
ENST00000617938.4:c.*168_*169dup ENSP00000481158.1:n.*168_*169dup
ENST00000621359.2:c.1196_1197dup ENSP00000481416.1:p.Asn400GlnfsTer13
NM_000251.2:c.1196_1197dup , LRG_218t1:c.1196_1197dup NP_000242.1:p.Asn400GlnfsTer13
NM_001258281.1:c.998_999dup NP_001245210.1:p.Asn334GlnfsTer13
XM_005264332.2:c.1196_1197dup XP_005264389.2:p.Asn400GlnfsTer13
XM_011532867.1:c.1196_1197dup XP_011531169.1:p.Asn400GlnfsTer13
XR_939685.1:n.1268_1269dup
XM_005264332.4:c.1196_1197dup XP_005264389.2:p.Asn400GlnfsTer13
XM_011532867.2:c.1196_1197dup XP_011531169.1:p.Asn400GlnfsTer13
XR_001738747.2:n.1258_1259dup
XR_939685.2:n.1258_1259dup
NM_000251.3:c.1196_1197dup MANE Select NP_000242.1:p.Asn400GlnfsTer13