Canonical Allele Identifier: CA913189181

Gene: MSH2

Linked Data

• ClinVar Variation Id: 2673334
• ClinVar RCV Id: RCV003455959

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47471052dup , CM000664.2:g.47471052dup	GRCh38
NC_000002.11:g.47698191dup , CM000664.1:g.47698191dup	GRCh37
NC_000002.10:g.47551695dup	NCBI36
NG_007110.2:g.72929dup , LRG_218:g.72929dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1749dup	ENSP00000495641.2:p.Ile584TyrfsTer14
ENST00000233146.7:c.1749dup MANE Select	ENSP00000233146.2:p.Ile584TyrfsTer14
ENST00000543555.6:c.1551dup	ENSP00000442697.1:p.Ile518TyrfsTer14
ENST00000644092.1:c.*49dup	ENSP00000496351.1:n.*49dup
ENST00000645339.1:c.1749dup	ENSP00000496441.1:p.Ile584TyrfsTer14
ENST00000645506.1:c.1749dup	ENSP00000495455.1:p.Ile584TyrfsTer14
ENST00000646415.1:c.1749dup	ENSP00000495543.1:p.Ile584TyrfsTer14
ENST00000233146.6:c.1749dup	ENSP00000233146.2:p.Ile584TyrfsTer14
ENST00000406134.5:c.1749dup	ENSP00000384199.1:p.Ile584TyrfsTer14
ENST00000543555.5:c.1551dup	ENSP00000442697.1:p.Ile518TyrfsTer14
ENST00000610696.4:c.*145dup	ENSP00000483159.1:n.*145dup
ENST00000613514.4:c.*289dup	ENSP00000484137.1:n.*289dup
ENST00000617333.3:c.*515dup	ENSP00000482468.1:n.*515dup
ENST00000617938.4:c.*721dup	ENSP00000481158.1:n.*721dup
ENST00000621359.2:c.1749dup	ENSP00000481416.1:p.Ile584TyrfsTer14
NM_000251.2:c.1749dup , LRG_218t1:c.1749dup	NP_000242.1:p.Ile584TyrfsTer14
NM_001258281.1:c.1551dup	NP_001245210.1:p.Ile518TyrfsTer14
XM_005264332.2:c.1749dup	XP_005264389.2:p.Ile584TyrfsTer14
XM_011532867.1:c.1749dup	XP_011531169.1:p.Ile584TyrfsTer14
XR_939685.1:n.1821dup
XM_005264332.4:c.1749dup	XP_005264389.2:p.Ile584TyrfsTer14
XM_011532867.2:c.1749dup	XP_011531169.1:p.Ile584TyrfsTer14
XR_001738747.2:n.1811dup
XR_939685.2:n.1811dup
NM_000251.3:c.1749dup MANE Select	NP_000242.1:p.Ile584TyrfsTer14