Canonical Allele Identifier: CA2580611305

Gene: MSH2

Linked Data

• ClinVar Variation Id: 2017167
• ClinVar RCV Id: RCV002835064

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47482848_47482850del , CM000664.2:g.47482848_47482850del	GRCh38
NC_000002.11:g.47709987_47709989del , CM000664.1:g.47709987_47709989del	GRCh37
NC_000002.10:g.47563491_47563493del	NCBI36
NG_007110.2:g.84725_84727del , LRG_218:g.84725_84727del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2634+1977_2634+1979del	ENSP00000495641.2:n.2634+1977_2634+1979del
ENST00000233146.7:c.2704_2706del MANE Select	ENSP00000233146.2:p.Glu902del
ENST00000543555.6:c.2506_2508del	ENSP00000442697.1:p.Glu836del
ENST00000644092.1:c.*934+1977_*934+1979del	ENSP00000496351.1:n.*934+1977_*934+1979del
ENST00000644900.1:c.487+1977_487+1979del
ENST00000645339.1:c.2634+1977_2634+1979del	ENSP00000496441.1:n.2634+1977_2634+1979del
ENST00000645506.1:c.2634+1977_2634+1979del	ENSP00000495455.1:n.2634+1977_2634+1979del
ENST00000646415.1:c.2634+1977_2634+1979del	ENSP00000495543.1:n.2634+1977_2634+1979del
ENST00000233146.6:c.2704_2706del	ENSP00000233146.2:p.Glu902del
ENST00000406134.5:c.2634+1977_2634+1979del	ENSP00000384199.1:n.2634+1977_2634+1979del
ENST00000461394.5:n.75+1977_75+1979del
ENST00000543555.5:c.2506_2508del	ENSP00000442697.1:p.Glu836del
ENST00000610696.4:c.*1100_*1102del	ENSP00000483159.1:n.*1100_*1102del
ENST00000613514.4:c.*1244_*1246del	ENSP00000484137.1:n.*1244_*1246del
ENST00000617333.3:c.*1470_*1472del	ENSP00000482468.1:n.*1470_*1472del
ENST00000617938.4:c.*1676_*1678del	ENSP00000481158.1:n.*1676_*1678del
ENST00000621359.2:c.*270_*272del	ENSP00000481416.1:n.*270_*272del
NM_000251.2:c.2704_2706del , LRG_218t1:c.2704_2706del	NP_000242.1:p.Glu902del
NM_001258281.1:c.2506_2508del	NP_001245210.1:p.Glu836del
XM_005264332.2:c.2634+1977_2634+1979del	XP_005264389.2:n.2634+1977_2634+1979del
XM_011532867.1:c.2634+1977_2634+1979del	XP_011531169.1:n.2634+1977_2634+1979del
XR_939685.1:n.2706+1977_2706+1979del
XM_005264332.4:c.2634+1977_2634+1979del	XP_005264389.2:n.2634+1977_2634+1979del
XM_011532867.2:c.2634+1977_2634+1979del	XP_011531169.1:n.2634+1977_2634+1979del
XR_001738747.2:n.2696+1977_2696+1979del
XR_939685.2:n.2696+1977_2696+1979del
NM_000251.3:c.2704_2706del MANE Select	NP_000242.1:p.Glu902del