Canonical Allele Identifier: CA2580067206

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1786996
• ClinVar RCV Id: RCV002432660

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47476528_47476530del , CM000664.2:g.47476528_47476530del	GRCh38
NC_000002.11:g.47703667_47703669del , CM000664.1:g.47703667_47703669del	GRCh37
NC_000002.10:g.47557171_47557173del	NCBI36
NG_007110.2:g.78405_78407del , LRG_218:g.78405_78407del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2167_2169del	ENSP00000495641.2:p.Ser723del
ENST00000233146.7:c.2167_2169del MANE Select	ENSP00000233146.2:p.Ser723del
ENST00000543555.6:c.1969_1971del	ENSP00000442697.1:p.Ser657del
ENST00000644092.1:c.*467_*469del	ENSP00000496351.1:n.*467_*469del
ENST00000644900.1:c.20_22del
ENST00000645339.1:c.2167_2169del	ENSP00000496441.1:p.Ser723del
ENST00000645506.1:c.2167_2169del	ENSP00000495455.1:p.Ser723del
ENST00000646415.1:c.2167_2169del	ENSP00000495543.1:p.Ser723del
ENST00000233146.6:c.2167_2169del	ENSP00000233146.2:p.Ser723del
ENST00000406134.5:c.2167_2169del	ENSP00000384199.1:p.Ser723del
ENST00000543555.5:c.1969_1971del	ENSP00000442697.1:p.Ser657del
ENST00000610696.4:c.*563_*565del	ENSP00000483159.1:n.*563_*565del
ENST00000613514.4:c.*707_*709del	ENSP00000484137.1:n.*707_*709del
ENST00000617333.3:c.*933_*935del	ENSP00000482468.1:n.*933_*935del
ENST00000617938.4:c.*1139_*1141del	ENSP00000481158.1:n.*1139_*1141del
ENST00000621359.2:c.2167_2169del	ENSP00000481416.1:p.Ser723del
NM_000251.2:c.2167_2169del , LRG_218t1:c.2167_2169del	NP_000242.1:p.Ser723del
NM_001258281.1:c.1969_1971del	NP_001245210.1:p.Ser657del
XM_005264332.2:c.2167_2169del	XP_005264389.2:p.Ser723del
XM_011532867.1:c.2167_2169del	XP_011531169.1:p.Ser723del
XR_939685.1:n.2239_2241del
XM_005264332.4:c.2167_2169del	XP_005264389.2:p.Ser723del
XM_011532867.2:c.2167_2169del	XP_011531169.1:p.Ser723del
XR_001738747.2:n.2229_2231del
XR_939685.2:n.2229_2231del
NM_000251.3:c.2167_2169del MANE Select	NP_000242.1:p.Ser723del