Canonical Allele Identifier: CA2580066999
Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1781087
ClinVar RCV Id: RCV002412774

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47475104_47475111dup , CM000664.2:g.47475104_47475111dup GRCh38
NC_000002.11:g.47702243_47702250dup , CM000664.1:g.47702243_47702250dup GRCh37
NC_000002.10:g.47555747_47555754dup NCBI36
NG_007110.2:g.76981_76988dup , LRG_218:g.76981_76988dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000644900.2:c.1839_1846dup ENSP00000495641.2:p.Pro616LeufsTer22
ENST00000233146.7:c.1839_1846dup MANE Select ENSP00000233146.2:p.Pro616LeufsTer22
ENST00000543555.6:c.1641_1648dup ENSP00000442697.1:p.Pro550LeufsTer22
ENST00000644092.1:c.*139_*146dup ENSP00000496351.1:n.*139_*146dup
ENST00000645339.1:c.1839_1846dup ENSP00000496441.1:p.Pro616LeufsTer22
ENST00000645506.1:c.1839_1846dup ENSP00000495455.1:p.Pro616LeufsTer22
ENST00000646415.1:c.1839_1846dup ENSP00000495543.1:p.Pro616LeufsTer22
ENST00000233146.6:c.1839_1846dup ENSP00000233146.2:p.Pro616LeufsTer22
ENST00000406134.5:c.1839_1846dup ENSP00000384199.1:p.Pro616LeufsTer22
ENST00000543555.5:c.1641_1648dup ENSP00000442697.1:p.Pro550LeufsTer22
ENST00000610696.4:c.*235_*242dup ENSP00000483159.1:n.*235_*242dup
ENST00000613514.4:c.*379_*386dup ENSP00000484137.1:n.*379_*386dup
ENST00000617333.3:c.*605_*612dup ENSP00000482468.1:n.*605_*612dup
ENST00000617938.4:c.*811_*818dup ENSP00000481158.1:n.*811_*818dup
ENST00000621359.2:c.1839_1846dup ENSP00000481416.1:p.Pro616LeufsTer22
NM_000251.2:c.1839_1846dup , LRG_218t1:c.1839_1846dup NP_000242.1:p.Pro616LeufsTer22
NM_001258281.1:c.1641_1648dup NP_001245210.1:p.Pro550LeufsTer22
XM_005264332.2:c.1839_1846dup XP_005264389.2:p.Pro616LeufsTer22
XM_011532867.1:c.1839_1846dup XP_011531169.1:p.Pro616LeufsTer22
XR_939685.1:n.1911_1918dup
XM_005264332.4:c.1839_1846dup XP_005264389.2:p.Pro616LeufsTer22
XM_011532867.2:c.1839_1846dup XP_011531169.1:p.Pro616LeufsTer22
XR_001738747.2:n.1901_1908dup
XR_939685.2:n.1901_1908dup
NM_000251.3:c.1839_1846dup MANE Select NP_000242.1:p.Pro616LeufsTer22