Canonical Allele Identifier: CA2697548050

Gene: MSH2

Linked Data

• ClinVar Variation Id: 2772214
• ClinVar RCV Id: RCV003594606

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478428_47478429delinsTC , CM000664.2:g.47478428_47478429delinsTC	GRCh38
NC_000002.11:g.47705567_47705568delinsTC , CM000664.1:g.47705567_47705568delinsTC	GRCh37
NC_000002.10:g.47559071_47559072delinsTC	NCBI36
NG_007110.2:g.80305_80306delinsTC , LRG_218:g.80305_80306delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2367_2368delinsTC	ENSP00000495641.2:p.Ala789=
ENST00000233146.7:c.2367_2368delinsTC MANE Select	ENSP00000233146.2:p.Ala789=
ENST00000543555.6:c.2169_2170delinsTC	ENSP00000442697.1:p.Ala723=
ENST00000644092.1:c.*667_*668delinsTC	ENSP00000496351.1:n.*667_*668delinsTC
ENST00000644900.1:c.220_221delinsTC
ENST00000645339.1:c.2367_2368delinsTC	ENSP00000496441.1:p.Ala789=
ENST00000645506.1:c.2367_2368delinsTC	ENSP00000495455.1:p.Ala789=
ENST00000646415.1:c.2367_2368delinsTC	ENSP00000495543.1:p.Ala789=
ENST00000233146.6:c.2367_2368delinsTC	ENSP00000233146.2:p.Ala789=
ENST00000406134.5:c.2367_2368delinsTC	ENSP00000384199.1:p.Ala789=
ENST00000543555.5:c.2169_2170delinsTC	ENSP00000442697.1:p.Ala723=
ENST00000610696.4:c.*763_*764delinsTC	ENSP00000483159.1:n.*763_*764delinsTC
ENST00000613514.4:c.*907_*908delinsTC	ENSP00000484137.1:n.*907_*908delinsTC
ENST00000617333.3:c.*1133_*1134delinsTC	ENSP00000482468.1:n.*1133_*1134delinsTC
ENST00000617938.4:c.*1339_*1340delinsTC	ENSP00000481158.1:n.*1339_*1340delinsTC
ENST00000621359.2:c.2366_2367delinsTC	ENSP00000481416.1:p.Pro789Leu
NM_000251.2:c.2367_2368delinsTC , LRG_218t1:c.2367_2368delinsTC	NP_000242.1:p.Ala789=
NM_001258281.1:c.2169_2170delinsTC	NP_001245210.1:p.Ala723=
XM_005264332.2:c.2367_2368delinsTC	XP_005264389.2:p.Ala789=
XM_011532867.1:c.2367_2368delinsTC	XP_011531169.1:p.Ala789=
XR_939685.1:n.2439_2440delinsTC
XM_005264332.4:c.2367_2368delinsTC	XP_005264389.2:p.Ala789=
XM_011532867.2:c.2367_2368delinsTC	XP_011531169.1:p.Ala789=
XR_001738747.2:n.2429_2430delinsTC
XR_939685.2:n.2429_2430delinsTC
NM_000251.3:c.2367_2368delinsTC MANE Select	NP_000242.1:p.Ala789=