Canonical Allele Identifier: CA2695200716

Gene: MSH2

Linked Data

• ClinVar Variation Id: 2673470
• ClinVar RCV Id: RCV003450192

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478324_47478330del , CM000664.2:g.47478324_47478330del	GRCh38
NC_000002.11:g.47705463_47705469del , CM000664.1:g.47705463_47705469del	GRCh37
NC_000002.10:g.47558967_47558973del	NCBI36
NG_007110.2:g.80201_80207del , LRG_218:g.80201_80207del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2263_2269del	ENSP00000495641.2:p.Ser755ThrfsTer6
ENST00000233146.7:c.2263_2269del MANE Select	ENSP00000233146.2:p.Ser755ThrfsTer6
ENST00000543555.6:c.2065_2071del	ENSP00000442697.1:p.Ser689ThrfsTer6
ENST00000644092.1:c.*563_*569del	ENSP00000496351.1:n.*563_*569del
ENST00000644900.1:c.116_122del
ENST00000645339.1:c.2263_2269del	ENSP00000496441.1:p.Ser755ThrfsTer6
ENST00000645506.1:c.2263_2269del	ENSP00000495455.1:p.Ser755ThrfsTer6
ENST00000646415.1:c.2263_2269del	ENSP00000495543.1:p.Ser755ThrfsTer6
ENST00000233146.6:c.2263_2269del	ENSP00000233146.2:p.Ser755ThrfsTer6
ENST00000406134.5:c.2263_2269del	ENSP00000384199.1:p.Ser755ThrfsTer6
ENST00000543555.5:c.2065_2071del	ENSP00000442697.1:p.Ser689ThrfsTer6
ENST00000610696.4:c.*659_*665del	ENSP00000483159.1:n.*659_*665del
ENST00000613514.4:c.*803_*809del	ENSP00000484137.1:n.*803_*809del
ENST00000617333.3:c.*1029_*1035del	ENSP00000482468.1:n.*1029_*1035del
ENST00000617938.4:c.*1235_*1241del	ENSP00000481158.1:n.*1235_*1241del
ENST00000621359.2:c.2263_2269del	ENSP00000481416.1:p.Ser755ThrfsTer6
NM_000251.2:c.2263_2269del , LRG_218t1:c.2263_2269del	NP_000242.1:p.Ser755ThrfsTer6
NM_001258281.1:c.2065_2071del	NP_001245210.1:p.Ser689ThrfsTer6
XM_005264332.2:c.2263_2269del	XP_005264389.2:p.Ser755ThrfsTer6
XM_011532867.1:c.2263_2269del	XP_011531169.1:p.Ser755ThrfsTer6
XR_939685.1:n.2335_2341del
XM_005264332.4:c.2263_2269del	XP_005264389.2:p.Ser755ThrfsTer6
XM_011532867.2:c.2263_2269del	XP_011531169.1:p.Ser755ThrfsTer6
XR_001738747.2:n.2325_2331del
XR_939685.2:n.2325_2331del
NM_000251.3:c.2263_2269del MANE Select	NP_000242.1:p.Ser755ThrfsTer6