Canonical Allele Identifier: CA658683233

Gene: MSH2

Linked Data

• ClinVar Variation Id: 492701
• ClinVar RCV Id: RCV000583441
• dbSNP Id: rs1553356523

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47429748_47429765delinsATCTTCTAC , CM000664.2:g.47429748_47429765delinsATCTTCTAC	GRCh38
NC_000002.11:g.47656887_47656904delinsATCTTCTAC , CM000664.1:g.47656887_47656904delinsATCTTCTAC	GRCh37
NC_000002.10:g.47510391_47510408delinsATCTTCTAC	NCBI36
NG_007110.2:g.31625_31642delinsATCTTCTAC , LRG_218:g.31625_31642delinsATCTTCTAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000644900.2:c.1083_1100delinsATCTTCTAC	ENSP00000495641.2:p.Asn361_Val367delinsLy...
ENST00000233146.7:c.1083_1100delinsATCTTCTAC MANE Select	ENSP00000233146.2:p.Asn361_Val367delinsLy...
ENST00000543555.6:c.885_902delinsATCTTCTAC	ENSP00000442697.1:p.Asn295_Val301delinsLy...
ENST00000644092.1:c.1083_1100delinsATCTTCTAC	ENSP00000496351.1:p.Asn361_Val367delinsLy...
ENST00000645339.1:c.1083_1100delinsATCTTCTAC	ENSP00000496441.1:p.Asn361_Val367delinsLy...
ENST00000645506.1:c.1083_1100delinsATCTTCTAC	ENSP00000495455.1:p.Asn361_Val367delinsLy...
ENST00000646415.1:c.1083_1100delinsATCTTCTAC	ENSP00000495543.1:p.Asn361_Val367delinsLy...
ENST00000233146.6:c.1083_1100delinsATCTTCTAC	ENSP00000233146.2:p.Asn361_Val367delinsLy...
ENST00000406134.5:c.1083_1100delinsATCTTCTAC	ENSP00000384199.1:p.Asn361_Val367delinsLy...
ENST00000543555.5:c.885_902delinsATCTTCTAC	ENSP00000442697.1:p.Asn295_Val301delinsLy...
ENST00000610696.4:c.1083_1100delinsATCTTCTAC	ENSP00000483159.1:p.Asn361_Val367delinsLy...
ENST00000613514.4:c.1083_1100delinsATCTTCTAC	ENSP00000484137.1:p.Asn361_Val367delinsLy...
ENST00000617333.3:c.1083_1100delinsATCTTCTAC	ENSP00000482468.1:p.Asn361_Val367delinsLy...
ENST00000617938.4:c.*55_*72delinsATCTTCTAC	ENSP00000481158.1:n.*55_*72delinsATCTTCTA...
ENST00000621359.2:c.1083_1100delinsATCTTCTAC	ENSP00000481416.1:p.Asn361_Val367delinsLy...
NM_000251.2:c.1083_1100delinsATCTTCTAC , LRG_218t1:c.1083_1100delinsATCTTCTAC	NP_000242.1:p.Asn361_Val367delinsLysSerSe...
NM_001258281.1:c.885_902delinsATCTTCTAC	NP_001245210.1:p.Asn295_Val301delinsLysSe...
XM_005264332.2:c.1083_1100delinsATCTTCTAC	XP_005264389.2:p.Asn361_Val367delinsLysSe...
XM_011532867.1:c.1083_1100delinsATCTTCTAC	XP_011531169.1:p.Asn361_Val367delinsLysSe...
XR_939685.1:n.1155_1172delinsATCTTCTAC
XM_005264332.4:c.1083_1100delinsATCTTCTAC	XP_005264389.2:p.Asn361_Val367delinsLysSe...
XM_011532867.2:c.1083_1100delinsATCTTCTAC	XP_011531169.1:p.Asn361_Val367delinsLysSe...
XR_001738747.2:n.1145_1162delinsATCTTCTAC
XR_939685.2:n.1145_1162delinsATCTTCTAC
NM_000251.3:c.1083_1100delinsATCTTCTAC MANE Select	NP_000242.1:p.Asn361_Val367delinsLysSerSe...