Canonical Allele Identifier: CA2580612570

Gene: MSH2

Linked Data

• ClinVar Variation Id: 2575237
• ClinVar RCV Id: RCV003320438

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478352_47478358del , CM000664.2:g.47478352_47478358del	GRCh38
NC_000002.11:g.47705491_47705497del , CM000664.1:g.47705491_47705497del	GRCh37
NC_000002.10:g.47558995_47559001del	NCBI36
NG_007110.2:g.80229_80235del , LRG_218:g.80229_80235del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2291_2297del	ENSP00000495641.2:p.Trp764TyrfsTer?
ENST00000233146.7:c.2291_2297del MANE Select	ENSP00000233146.2:p.Trp764TyrfsTer?
ENST00000543555.6:c.2093_2099del	ENSP00000442697.1:p.Trp698TyrfsTer?
ENST00000644092.1:c.*591_*597del	ENSP00000496351.1:n.*591_*597del
ENST00000644900.1:c.144_150del
ENST00000645339.1:c.2291_2297del	ENSP00000496441.1:p.Trp764TyrfsTer?
ENST00000645506.1:c.2291_2297del	ENSP00000495455.1:p.Trp764TyrfsTer?
ENST00000646415.1:c.2291_2297del	ENSP00000495543.1:p.Trp764TyrfsTer?
ENST00000233146.6:c.2291_2297del	ENSP00000233146.2:p.Trp764TyrfsTer?
ENST00000406134.5:c.2291_2297del	ENSP00000384199.1:p.Trp764TyrfsTer?
ENST00000543555.5:c.2093_2099del	ENSP00000442697.1:p.Trp698TyrfsTer?
ENST00000610696.4:c.*687_*693del	ENSP00000483159.1:n.*687_*693del
ENST00000613514.4:c.*831_*837del	ENSP00000484137.1:n.*831_*837del
ENST00000617333.3:c.*1057_*1063del	ENSP00000482468.1:n.*1057_*1063del
ENST00000617938.4:c.*1263_*1269del	ENSP00000481158.1:n.*1263_*1269del
ENST00000621359.2:c.2291_2297del	ENSP00000481416.1:p.Trp764TyrfsTer20
NM_000251.2:c.2291_2297del , LRG_218t1:c.2291_2297del	NP_000242.1:p.Trp764TyrfsTer?
NM_001258281.1:c.2093_2099del	NP_001245210.1:p.Trp698TyrfsTer?
XM_005264332.2:c.2291_2297del	XP_005264389.2:p.Trp764TyrfsTer?
XM_011532867.1:c.2291_2297del	XP_011531169.1:p.Trp764TyrfsTer?
XR_939685.1:n.2363_2369del
XM_005264332.4:c.2291_2297del	XP_005264389.2:p.Trp764TyrfsTer?
XM_011532867.2:c.2291_2297del	XP_011531169.1:p.Trp764TyrfsTer?
XR_001738747.2:n.2353_2359del
XR_939685.2:n.2353_2359del
NM_000251.3:c.2291_2297del MANE Select	NP_000242.1:p.Trp764TyrfsTer?