Canonical Allele Identifier: CA2499216070

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1068940
• ClinVar RCV Id: RCV001380642
• dbSNP Id: rs2104406331

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478436_47478439del , CM000664.2:g.47478436_47478439del	GRCh38
NC_000002.11:g.47705575_47705578del , CM000664.1:g.47705575_47705578del	GRCh37
NC_000002.10:g.47559079_47559082del	NCBI36
NG_007110.2:g.80313_80316del , LRG_218:g.80313_80316del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2375_2378del	ENSP00000495641.2:p.Asn792ArgfsTer19
ENST00000233146.7:c.2375_2378del MANE Select	ENSP00000233146.2:p.Asn792ArgfsTer19
ENST00000543555.6:c.2177_2180del	ENSP00000442697.1:p.Asn726ArgfsTer19
ENST00000644092.1:c.*675_*678del	ENSP00000496351.1:n.*675_*678del
ENST00000644900.1:c.228_231del
ENST00000645339.1:c.2375_2378del	ENSP00000496441.1:p.Asn792ArgfsTer19
ENST00000645506.1:c.2375_2378del	ENSP00000495455.1:p.Asn792ArgfsTer19
ENST00000646415.1:c.2375_2378del	ENSP00000495543.1:p.Asn792ArgfsTer19
ENST00000233146.6:c.2375_2378del	ENSP00000233146.2:p.Asn792ArgfsTer19
ENST00000406134.5:c.2375_2378del	ENSP00000384199.1:p.Asn792ArgfsTer19
ENST00000543555.5:c.2177_2180del	ENSP00000442697.1:p.Asn726ArgfsTer19
ENST00000610696.4:c.*771_*774del	ENSP00000483159.1:n.*771_*774del
ENST00000613514.4:c.*915_*918del	ENSP00000484137.1:n.*915_*918del
ENST00000617333.3:c.*1141_*1144del	ENSP00000482468.1:n.*1141_*1144del
ENST00000617938.4:c.*1347_*1350del	ENSP00000481158.1:n.*1347_*1350del
ENST00000621359.2:c.2374_2377del	ENSP00000481416.1:p.Ile792AspfsTer5
NM_000251.2:c.2375_2378del , LRG_218t1:c.2375_2378del	NP_000242.1:p.Asn792ArgfsTer19
NM_001258281.1:c.2177_2180del	NP_001245210.1:p.Asn726ArgfsTer19
XM_005264332.2:c.2375_2378del	XP_005264389.2:p.Asn792ArgfsTer19
XM_011532867.1:c.2375_2378del	XP_011531169.1:p.Asn792ArgfsTer19
XR_939685.1:n.2447_2450del
XM_005264332.4:c.2375_2378del	XP_005264389.2:p.Asn792ArgfsTer19
XM_011532867.2:c.2375_2378del	XP_011531169.1:p.Asn792ArgfsTer19
XR_001738747.2:n.2437_2440del
XR_939685.2:n.2437_2440del
NM_000251.3:c.2375_2378del MANE Select	NP_000242.1:p.Asn792ArgfsTer19