Canonical Allele Identifier: CA2580066622

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1754693
• ClinVar RCV Id: RCV002366855

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47412433_47412456dup , CM000664.2:g.47412433_47412456dup	GRCh38
NC_000002.11:g.47639572_47639595dup , CM000664.1:g.47639572_47639595dup	GRCh37
NC_000002.10:g.47493076_47493099dup	NCBI36
NG_007110.2:g.14310_14333dup , LRG_218:g.14310_14333dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000644900.2:c.665_688dup	ENSP00000495641.2:p.Lys229_Ala230insValLe...
ENST00000233146.7:c.665_688dup MANE Select	ENSP00000233146.2:p.Lys229_Ala230insValLe...
ENST00000543555.6:c.467_490dup	ENSP00000442697.1:p.Lys163_Ala164insValLe...
ENST00000644092.1:c.665_688dup	ENSP00000496351.1:p.Lys229_Ala230insValLe...
ENST00000645339.1:c.665_688dup	ENSP00000496441.1:p.Lys229_Ala230insValLe...
ENST00000645506.1:c.665_688dup	ENSP00000495455.1:p.Lys229_Ala230insValLe...
ENST00000646415.1:c.665_688dup	ENSP00000495543.1:p.Lys229_Ala230insValLe...
ENST00000233146.6:c.665_688dup	ENSP00000233146.2:p.Lys229_Ala230insValLe...
ENST00000406134.5:c.665_688dup	ENSP00000384199.1:p.Lys229_Ala230insValLe...
ENST00000543555.5:c.467_490dup	ENSP00000442697.1:p.Lys163_Ala164insValLe...
ENST00000610696.4:c.665_688dup	ENSP00000483159.1:p.Lys229_Ala230insValLe...
ENST00000613514.4:c.665_688dup	ENSP00000484137.1:p.Lys229_Ala230insValLe...
ENST00000617333.3:c.665_688dup	ENSP00000482468.1:p.Lys229_Ala230insValLe...
ENST00000617938.4:c.665_688dup	ENSP00000481158.1:p.Lys229_Ala230insValLe...
ENST00000621359.2:c.665_688dup	ENSP00000481416.1:p.Lys229_Ala230insValLe...
NM_000251.2:c.665_688dup , LRG_218t1:c.665_688dup	NP_000242.1:p.Lys229_Ala230insValLeuIleTh...
NM_001258281.1:c.467_490dup	NP_001245210.1:p.Lys163_Ala164insValLeuIl...
XM_005264332.2:c.665_688dup	XP_005264389.2:p.Lys229_Ala230insValLeuIl...
XM_011532867.1:c.665_688dup	XP_011531169.1:p.Lys229_Ala230insValLeuIl...
XR_939685.1:n.737_760dup
XM_005264332.4:c.665_688dup	XP_005264389.2:p.Lys229_Ala230insValLeuIl...
XM_011532867.2:c.665_688dup	XP_011531169.1:p.Lys229_Ala230insValLeuIl...
XR_001738747.2:n.727_750dup
XR_939685.2:n.727_750dup
NM_000251.3:c.665_688dup MANE Select	NP_000242.1:p.Lys229_Ala230insValLeuIleTh...