Canonical Allele Identifier: CA2580066600

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1786651
• ClinVar RCV Id: RCV002430616

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47429747_47429748insG , CM000664.2:g.47429747_47429748insG	GRCh38
NC_000002.11:g.47656886_47656887insG , CM000664.1:g.47656886_47656887insG	GRCh37
NC_000002.10:g.47510390_47510391insG	NCBI36
NG_007110.2:g.31624_31625insG , LRG_218:g.31624_31625insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1082_1083insG	ENSP00000495641.2:p.Asn361LysfsTer28
ENST00000233146.7:c.1082_1083insG MANE Select	ENSP00000233146.2:p.Asn361LysfsTer28
ENST00000543555.6:c.884_885insG	ENSP00000442697.1:p.Asn295LysfsTer28
ENST00000644092.1:c.1082_1083insG	ENSP00000496351.1:p.Asn361LysfsTer28
ENST00000645339.1:c.1082_1083insG	ENSP00000496441.1:p.Asn361LysfsTer28
ENST00000645506.1:c.1082_1083insG	ENSP00000495455.1:p.Asn361LysfsTer28
ENST00000646415.1:c.1082_1083insG	ENSP00000495543.1:p.Asn361LysfsTer28
ENST00000233146.6:c.1082_1083insG	ENSP00000233146.2:p.Asn361LysfsTer28
ENST00000406134.5:c.1082_1083insG	ENSP00000384199.1:p.Asn361LysfsTer28
ENST00000543555.5:c.884_885insG	ENSP00000442697.1:p.Asn295LysfsTer28
ENST00000610696.4:c.1082_1083insG	ENSP00000483159.1:p.Asn361LysfsTer28
ENST00000613514.4:c.1082_1083insG	ENSP00000484137.1:p.Asn361LysfsTer28
ENST00000617333.3:c.1082_1083insG	ENSP00000482468.1:p.Asn361LysfsTer?
ENST00000617938.4:c.*54_*55insG	ENSP00000481158.1:n.*54_*55insG
ENST00000621359.2:c.1082_1083insG	ENSP00000481416.1:p.Asn361LysfsTer28
NM_000251.2:c.1082_1083insG , LRG_218t1:c.1082_1083insG	NP_000242.1:p.Asn361LysfsTer28
NM_001258281.1:c.884_885insG	NP_001245210.1:p.Asn295LysfsTer28
XM_005264332.2:c.1082_1083insG	XP_005264389.2:p.Asn361LysfsTer28
XM_011532867.1:c.1082_1083insG	XP_011531169.1:p.Asn361LysfsTer28
XR_939685.1:n.1154_1155insG
XM_005264332.4:c.1082_1083insG	XP_005264389.2:p.Asn361LysfsTer28
XM_011532867.2:c.1082_1083insG	XP_011531169.1:p.Asn361LysfsTer28
XR_001738747.2:n.1144_1145insG
XR_939685.2:n.1144_1145insG
NM_000251.3:c.1082_1083insG MANE Select	NP_000242.1:p.Asn361LysfsTer28