Canonical Allele Identifier: CA913187988

Gene: MSH2

Linked Data

• ClinVar Variation Id: 926205
• ClinVar RCV Id: RCV001188619
• dbSNP Id: rs1667399535

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478456_47478459del , CM000664.2:g.47478456_47478459del	GRCh38
NC_000002.11:g.47705595_47705598del , CM000664.1:g.47705595_47705598del	GRCh37
NC_000002.10:g.47559099_47559102del	NCBI36
NG_007110.2:g.80333_80336del , LRG_218:g.80333_80336del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2395_2398del	ENSP00000495641.2:p.Asn799TyrfsTer12
ENST00000233146.7:c.2395_2398del MANE Select	ENSP00000233146.2:p.Asn799TyrfsTer12
ENST00000543555.6:c.2197_2200del	ENSP00000442697.1:p.Asn733TyrfsTer12
ENST00000644092.1:c.*695_*698del	ENSP00000496351.1:n.*695_*698del
ENST00000644900.1:c.248_251del
ENST00000645339.1:c.2395_2398del	ENSP00000496441.1:p.Asn799TyrfsTer12
ENST00000645506.1:c.2395_2398del	ENSP00000495455.1:p.Asn799TyrfsTer12
ENST00000646415.1:c.2395_2398del	ENSP00000495543.1:p.Asn799TyrfsTer12
ENST00000233146.6:c.2395_2398del	ENSP00000233146.2:p.Asn799TyrfsTer12
ENST00000406134.5:c.2395_2398del	ENSP00000384199.1:p.Asn799TyrfsTer12
ENST00000543555.5:c.2197_2200del	ENSP00000442697.1:p.Asn733TyrfsTer12
ENST00000610696.4:c.*791_*794del	ENSP00000483159.1:n.*791_*794del
ENST00000613514.4:c.*935_*938del	ENSP00000484137.1:n.*935_*938del
ENST00000617333.3:c.*1161_*1164del	ENSP00000482468.1:n.*1161_*1164del
ENST00000617938.4:c.*1367_*1370del	ENSP00000481158.1:n.*1367_*1370del
ENST00000621359.2:c.2394_2397del	ENSP00000481416.1:p.Ile799ThrfsTer8
NM_000251.2:c.2395_2398del , LRG_218t1:c.2395_2398del	NP_000242.1:p.Asn799TyrfsTer12
NM_001258281.1:c.2197_2200del	NP_001245210.1:p.Asn733TyrfsTer12
XM_005264332.2:c.2395_2398del	XP_005264389.2:p.Asn799TyrfsTer12
XM_011532867.1:c.2395_2398del	XP_011531169.1:p.Asn799TyrfsTer12
XR_939685.1:n.2467_2470del
XM_005264332.4:c.2395_2398del	XP_005264389.2:p.Asn799TyrfsTer12
XM_011532867.2:c.2395_2398del	XP_011531169.1:p.Asn799TyrfsTer12
XR_001738747.2:n.2457_2460del
XR_939685.2:n.2457_2460del
NM_000251.3:c.2395_2398del MANE Select	NP_000242.1:p.Asn799TyrfsTer12