Canonical Allele Identifier: CA916080259

Gene: MSH2

Linked Data

• ClinVar Variation Id: 848109
• ClinVar RCV Id: RCV001051797
• dbSNP Id: rs1667585271

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47482936_47482937del , CM000664.2:g.47482936_47482937del	GRCh38
NC_000002.11:g.47710075_47710076del , CM000664.1:g.47710075_47710076del	GRCh37
NC_000002.10:g.47563579_47563580del	NCBI36
NG_007110.2:g.84813_84814del , LRG_218:g.84813_84814del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2634+2065_2634+2066del	ENSP00000495641.2:n.2634+2065_2634+2066del
ENST00000233146.7:c.2792_2793del MANE Select	ENSP00000233146.2:p.Lys931SerfsTer21
ENST00000543555.6:c.2594_2595del	ENSP00000442697.1:p.Lys865SerfsTer21
ENST00000644092.1:c.*934+2065_*934+2066del	ENSP00000496351.1:n.*934+2065_*934+2066del
ENST00000644900.1:c.487+2065_487+2066del
ENST00000645339.1:c.2634+2065_2634+2066del	ENSP00000496441.1:n.2634+2065_2634+2066del
ENST00000645506.1:c.2634+2065_2634+2066del	ENSP00000495455.1:n.2634+2065_2634+2066del
ENST00000646415.1:c.2634+2065_2634+2066del	ENSP00000495543.1:n.2634+2065_2634+2066del
ENST00000233146.6:c.2792_2793del	ENSP00000233146.2:p.Lys931SerfsTer21
ENST00000406134.5:c.2634+2065_2634+2066del	ENSP00000384199.1:n.2634+2065_2634+2066del
ENST00000461394.5:n.75+2065_75+2066del
ENST00000543555.5:c.2594_2595del	ENSP00000442697.1:p.Lys865SerfsTer21
ENST00000610696.4:c.*1188_*1189del	ENSP00000483159.1:n.*1188_*1189del
ENST00000613514.4:c.*1332_*1333del	ENSP00000484137.1:n.*1332_*1333del
ENST00000617333.3:c.*1558_*1559del	ENSP00000482468.1:n.*1558_*1559del
ENST00000617938.4:c.*1764_*1765del	ENSP00000481158.1:n.*1764_*1765del
ENST00000621359.2:c.*358_*359del	ENSP00000481416.1:n.*358_*359del
NM_000251.2:c.2792_2793del , LRG_218t1:c.2792_2793del	NP_000242.1:p.Lys931SerfsTer21
NM_001258281.1:c.2594_2595del	NP_001245210.1:p.Lys865SerfsTer21
XM_005264332.2:c.2634+2065_2634+2066del	XP_005264389.2:n.2634+2065_2634+2066del
XM_011532867.1:c.2634+2065_2634+2066del	XP_011531169.1:n.2634+2065_2634+2066del
XR_939685.1:n.2706+2065_2706+2066del
XM_005264332.4:c.2634+2065_2634+2066del	XP_005264389.2:n.2634+2065_2634+2066del
XM_011532867.2:c.2634+2065_2634+2066del	XP_011531169.1:n.2634+2065_2634+2066del
XR_001738747.2:n.2696+2065_2696+2066del
XR_939685.2:n.2696+2065_2696+2066del
NM_000251.3:c.2792_2793del MANE Select	NP_000242.1:p.Lys931SerfsTer21