Canonical Allele Identifier: CA2580066955

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1780293
• ClinVar RCV Id: RCV002404262

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47475063_47475151del , CM000664.2:g.47475063_47475151del	GRCh38
NC_000002.11:g.47702202_47702290del , CM000664.1:g.47702202_47702290del	GRCh37
NC_000002.10:g.47555706_47555794del	NCBI36
NG_007110.2:g.76940_77028del , LRG_218:g.76940_77028del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1798_1886del	ENSP00000495641.2:p.Ala600ArgfsTer14
ENST00000233146.7:c.1798_1886del MANE Select	ENSP00000233146.2:p.Ala600ArgfsTer14
ENST00000543555.6:c.1600_1688del	ENSP00000442697.1:p.Ala534ArgfsTer14
ENST00000644092.1:c.*98_*186del	ENSP00000496351.1:n.*98_*186del
ENST00000645339.1:c.1798_1886del	ENSP00000496441.1:p.Ala600ArgfsTer14
ENST00000645506.1:c.1798_1886del	ENSP00000495455.1:p.Ala600ArgfsTer14
ENST00000646415.1:c.1798_1886del	ENSP00000495543.1:p.Ala600ArgfsTer14
ENST00000233146.6:c.1798_1886del	ENSP00000233146.2:p.Ala600ArgfsTer14
ENST00000406134.5:c.1798_1886del	ENSP00000384199.1:p.Ala600ArgfsTer14
ENST00000543555.5:c.1600_1688del	ENSP00000442697.1:p.Ala534ArgfsTer14
ENST00000610696.4:c.*194_*282del	ENSP00000483159.1:n.*194_*282del
ENST00000613514.4:c.*338_*426del	ENSP00000484137.1:n.*338_*426del
ENST00000617333.3:c.*564_*652del	ENSP00000482468.1:n.*564_*652del
ENST00000617938.4:c.*770_*858del	ENSP00000481158.1:n.*770_*858del
ENST00000621359.2:c.1798_1886del	ENSP00000481416.1:p.Ala600ArgfsTer14
NM_000251.2:c.1798_1886del , LRG_218t1:c.1798_1886del	NP_000242.1:p.Ala600ArgfsTer14
NM_001258281.1:c.1600_1688del	NP_001245210.1:p.Ala534ArgfsTer14
XM_005264332.2:c.1798_1886del	XP_005264389.2:p.Ala600ArgfsTer14
XM_011532867.1:c.1798_1886del	XP_011531169.1:p.Ala600ArgfsTer14
XR_939685.1:n.1870_1958del
XM_005264332.4:c.1798_1886del	XP_005264389.2:p.Ala600ArgfsTer14
XM_011532867.2:c.1798_1886del	XP_011531169.1:p.Ala600ArgfsTer14
XR_001738747.2:n.1860_1948del
XR_939685.2:n.1860_1948del
NM_000251.3:c.1798_1886del MANE Select	NP_000242.1:p.Ala600ArgfsTer14