Canonical Allele Identifier: CA2580066843

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1778255
• ClinVar RCV Id: RCV003454272 ; RCV002406246
• gnomAD v4: 2-47470995-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47471000dup , CM000664.2:g.47471000dup	GRCh38
NC_000002.11:g.47698139dup , CM000664.1:g.47698139dup	GRCh37
NC_000002.10:g.47551643dup	NCBI36
NG_007110.2:g.72877dup , LRG_218:g.72877dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1697dup	ENSP00000495641.2:p.Asn566LysfsTer2
ENST00000233146.7:c.1697dup MANE Select	ENSP00000233146.2:p.Asn566LysfsTer2
ENST00000543555.6:c.1499dup	ENSP00000442697.1:p.Asn500LysfsTer2
ENST00000644092.1:c.1674dup	ENSP00000496351.1:p.Ter559IleextTer24
ENST00000645339.1:c.1697dup	ENSP00000496441.1:p.Asn566LysfsTer2
ENST00000645506.1:c.1697dup	ENSP00000495455.1:p.Asn566LysfsTer2
ENST00000646415.1:c.1697dup	ENSP00000495543.1:p.Asn566LysfsTer2
ENST00000233146.6:c.1697dup	ENSP00000233146.2:p.Asn566LysfsTer2
ENST00000406134.5:c.1697dup	ENSP00000384199.1:p.Asn566LysfsTer2
ENST00000543555.5:c.1499dup	ENSP00000442697.1:p.Asn500LysfsTer2
ENST00000610696.4:c.*93dup	ENSP00000483159.1:n.*93dup
ENST00000613514.4:c.*237dup	ENSP00000484137.1:n.*237dup
ENST00000617333.3:c.*463dup	ENSP00000482468.1:n.*463dup
ENST00000617938.4:c.*669dup	ENSP00000481158.1:n.*669dup
ENST00000621359.2:c.1697dup	ENSP00000481416.1:p.Asn566LysfsTer2
NM_000251.2:c.1697dup , LRG_218t1:c.1697dup	NP_000242.1:p.Asn566LysfsTer2
NM_001258281.1:c.1499dup	NP_001245210.1:p.Asn500LysfsTer2
XM_005264332.2:c.1697dup	XP_005264389.2:p.Asn566LysfsTer2
XM_011532867.1:c.1697dup	XP_011531169.1:p.Asn566LysfsTer2
XR_939685.1:n.1769dup
XM_005264332.4:c.1697dup	XP_005264389.2:p.Asn566LysfsTer2
XM_011532867.2:c.1697dup	XP_011531169.1:p.Asn566LysfsTer2
XR_001738747.2:n.1759dup
XR_939685.2:n.1759dup
NM_000251.3:c.1697dup MANE Select	NP_000242.1:p.Asn566LysfsTer2