Canonical Allele Identifier: CA2580066998

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1781086
• ClinVar RCV Id: RCV002412773 ; RCV003097289

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47475104_47475110dup , CM000664.2:g.47475104_47475110dup	GRCh38
NC_000002.11:g.47702243_47702249dup , CM000664.1:g.47702243_47702249dup	GRCh37
NC_000002.10:g.47555747_47555753dup	NCBI36
NG_007110.2:g.76981_76987dup , LRG_218:g.76981_76987dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1839_1845dup	ENSP00000495641.2:p.Pro616TrpfsTer30
ENST00000233146.7:c.1839_1845dup MANE Select	ENSP00000233146.2:p.Pro616TrpfsTer30
ENST00000543555.6:c.1641_1647dup	ENSP00000442697.1:p.Pro550TrpfsTer30
ENST00000644092.1:c.*139_*145dup	ENSP00000496351.1:n.*139_*145dup
ENST00000645339.1:c.1839_1845dup	ENSP00000496441.1:p.Pro616TrpfsTer30
ENST00000645506.1:c.1839_1845dup	ENSP00000495455.1:p.Pro616TrpfsTer30
ENST00000646415.1:c.1839_1845dup	ENSP00000495543.1:p.Pro616TrpfsTer30
ENST00000233146.6:c.1839_1845dup	ENSP00000233146.2:p.Pro616TrpfsTer30
ENST00000406134.5:c.1839_1845dup	ENSP00000384199.1:p.Pro616TrpfsTer30
ENST00000543555.5:c.1641_1647dup	ENSP00000442697.1:p.Pro550TrpfsTer30
ENST00000610696.4:c.*235_*241dup	ENSP00000483159.1:n.*235_*241dup
ENST00000613514.4:c.*379_*385dup	ENSP00000484137.1:n.*379_*385dup
ENST00000617333.3:c.*605_*611dup	ENSP00000482468.1:n.*605_*611dup
ENST00000617938.4:c.*811_*817dup	ENSP00000481158.1:n.*811_*817dup
ENST00000621359.2:c.1839_1845dup	ENSP00000481416.1:p.Pro616TrpfsTer30
NM_000251.2:c.1839_1845dup , LRG_218t1:c.1839_1845dup	NP_000242.1:p.Pro616TrpfsTer30
NM_001258281.1:c.1641_1647dup	NP_001245210.1:p.Pro550TrpfsTer30
XM_005264332.2:c.1839_1845dup	XP_005264389.2:p.Pro616TrpfsTer30
XM_011532867.1:c.1839_1845dup	XP_011531169.1:p.Pro616TrpfsTer30
XR_939685.1:n.1911_1917dup
XM_005264332.4:c.1839_1845dup	XP_005264389.2:p.Pro616TrpfsTer30
XM_011532867.2:c.1839_1845dup	XP_011531169.1:p.Pro616TrpfsTer30
XR_001738747.2:n.1901_1907dup
XR_939685.2:n.1901_1907dup
NM_000251.3:c.1839_1845dup MANE Select	NP_000242.1:p.Pro616TrpfsTer30