Canonical Allele Identifier: CA1139655606

Gene: MSH2

Linked Data

• ClinVar Variation Id: 993962
• ClinVar RCV Id: RCV001812992 ; RCV002430072
• dbSNP Id: rs1667496297

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47480776_47480779del , CM000664.2:g.47480776_47480779del	GRCh38
NC_000002.11:g.47707915_47707918del , CM000664.1:g.47707915_47707918del	GRCh37
NC_000002.10:g.47561419_47561422del	NCBI36
NG_007110.2:g.82653_82656del , LRG_218:g.82653_82656del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2539_2542del	ENSP00000495641.2:p.Lys847ProfsTer?
ENST00000233146.7:c.2539_2542del MANE Select	ENSP00000233146.2:p.Lys847ProfsTer?
ENST00000543555.6:c.2341_2344del	ENSP00000442697.1:p.Lys781ProfsTer?
ENST00000644092.1:c.*839_*842del	ENSP00000496351.1:n.*839_*842del
ENST00000644900.1:c.392_395del
ENST00000645339.1:c.2539_2542del	ENSP00000496441.1:p.Lys847ProfsTer?
ENST00000645506.1:c.2539_2542del	ENSP00000495455.1:p.Lys847ProfsTer?
ENST00000646415.1:c.2539_2542del	ENSP00000495543.1:p.Lys847ProfsTer?
ENST00000233146.6:c.2539_2542del	ENSP00000233146.2:p.Lys847ProfsTer?
ENST00000406134.5:c.2539_2542del	ENSP00000384199.1:p.Lys847ProfsTer?
ENST00000543555.5:c.2341_2344del	ENSP00000442697.1:p.Lys781ProfsTer?
ENST00000610696.4:c.*935_*938del	ENSP00000483159.1:n.*935_*938del
ENST00000613514.4:c.*1079_*1082del	ENSP00000484137.1:n.*1079_*1082del
ENST00000617333.3:c.*1305_*1308del	ENSP00000482468.1:n.*1305_*1308del
ENST00000617938.4:c.*1511_*1514del	ENSP00000481158.1:n.*1511_*1514del
ENST00000621359.2:c.*105_*108del	ENSP00000481416.1:n.*105_*108del
NM_000251.2:c.2539_2542del , LRG_218t1:c.2539_2542del	NP_000242.1:p.Lys847ProfsTer?
NM_001258281.1:c.2341_2344del	NP_001245210.1:p.Lys781ProfsTer?
XM_005264332.2:c.2539_2542del	XP_005264389.2:p.Lys847ProfsTer?
XM_011532867.1:c.2539_2542del	XP_011531169.1:p.Lys847ProfsTer?
XR_939685.1:n.2611_2614del
XM_005264332.4:c.2539_2542del	XP_005264389.2:p.Lys847ProfsTer?
XM_011532867.2:c.2539_2542del	XP_011531169.1:p.Lys847ProfsTer?
XR_001738747.2:n.2601_2604del
XR_939685.2:n.2601_2604del
NM_000251.3:c.2539_2542del MANE Select	NP_000242.1:p.Lys847ProfsTer?