Canonical Allele Identifier: CA2580066650

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1728071
• ClinVar RCV Id: RCV002320703

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47429795_47429801del , CM000664.2:g.47429795_47429801del	GRCh38
NC_000002.11:g.47656934_47656940del , CM000664.1:g.47656934_47656940del	GRCh37
NC_000002.10:g.47510438_47510444del	NCBI36
NG_007110.2:g.31672_31678del , LRG_218:g.31672_31678del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1130_1136del	ENSP00000495641.2:p.Gln377LeufsTer?
ENST00000233146.7:c.1130_1136del MANE Select	ENSP00000233146.2:p.Gln377LeufsTer?
ENST00000543555.6:c.932_938del	ENSP00000442697.1:p.Gln311LeufsTer?
ENST00000644092.1:c.1130_1136del	ENSP00000496351.1:p.Gln377LeufsTer?
ENST00000645339.1:c.1130_1136del	ENSP00000496441.1:p.Gln377LeufsTer?
ENST00000645506.1:c.1130_1136del	ENSP00000495455.1:p.Gln377LeufsTer?
ENST00000646415.1:c.1130_1136del	ENSP00000495543.1:p.Gln377LeufsTer?
ENST00000233146.6:c.1130_1136del	ENSP00000233146.2:p.Gln377LeufsTer?
ENST00000406134.5:c.1130_1136del	ENSP00000384199.1:p.Gln377LeufsTer?
ENST00000543555.5:c.932_938del	ENSP00000442697.1:p.Gln311LeufsTer?
ENST00000610696.4:c.1130_1136del	ENSP00000483159.1:p.Gln377LeufsTer?
ENST00000613514.4:c.1130_1136del	ENSP00000484137.1:p.Gln377LeufsTer?
ENST00000617333.3:c.1130_1136del	ENSP00000482468.1:p.Gln377LeufsTer9
ENST00000617938.4:c.*102_*108del	ENSP00000481158.1:n.*102_*108del
ENST00000621359.2:c.1130_1136del	ENSP00000481416.1:p.Gln377LeufsTer?
NM_000251.2:c.1130_1136del , LRG_218t1:c.1130_1136del	NP_000242.1:p.Gln377LeufsTer?
NM_001258281.1:c.932_938del	NP_001245210.1:p.Gln311LeufsTer?
XM_005264332.2:c.1130_1136del	XP_005264389.2:p.Gln377LeufsTer?
XM_011532867.1:c.1130_1136del	XP_011531169.1:p.Gln377LeufsTer?
XR_939685.1:n.1202_1208del
XM_005264332.4:c.1130_1136del	XP_005264389.2:p.Gln377LeufsTer?
XM_011532867.2:c.1130_1136del	XP_011531169.1:p.Gln377LeufsTer?
XR_001738747.2:n.1192_1198del
XR_939685.2:n.1192_1198del
NM_000251.3:c.1130_1136del MANE Select	NP_000242.1:p.Gln377LeufsTer?