Canonical Allele Identifier: CA2580066890

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1789500
• ClinVar RCV Id: RCV002448063

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478378_47478394del , CM000664.2:g.47478378_47478394del	GRCh38
NC_000002.11:g.47705517_47705533del , CM000664.1:g.47705517_47705533del	GRCh37
NC_000002.10:g.47559021_47559037del	NCBI36
NG_007110.2:g.80255_80271del , LRG_218:g.80255_80271del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2317_2333del	ENSP00000495641.2:p.Lys773HisfsTer8
ENST00000233146.7:c.2317_2333del MANE Select	ENSP00000233146.2:p.Lys773HisfsTer8
ENST00000543555.6:c.2119_2135del	ENSP00000442697.1:p.Lys707HisfsTer8
ENST00000644092.1:c.*617_*633del	ENSP00000496351.1:n.*617_*633del
ENST00000644900.1:c.170_186del
ENST00000645339.1:c.2317_2333del	ENSP00000496441.1:p.Lys773HisfsTer8
ENST00000645506.1:c.2317_2333del	ENSP00000495455.1:p.Lys773HisfsTer8
ENST00000646415.1:c.2317_2333del	ENSP00000495543.1:p.Lys773HisfsTer8
ENST00000233146.6:c.2317_2333del	ENSP00000233146.2:p.Lys773HisfsTer8
ENST00000406134.5:c.2317_2333del	ENSP00000384199.1:p.Lys773HisfsTer8
ENST00000543555.5:c.2119_2135del	ENSP00000442697.1:p.Lys707HisfsTer8
ENST00000610696.4:c.*713_*729del	ENSP00000483159.1:n.*713_*729del
ENST00000613514.4:c.*857_*873del	ENSP00000484137.1:n.*857_*873del
ENST00000617333.3:c.*1083_*1099del	ENSP00000482468.1:n.*1083_*1099del
ENST00000617938.4:c.*1289_*1305del	ENSP00000481158.1:n.*1289_*1305del
ENST00000621359.2:c.2317_2333del	ENSP00000481416.1:p.Lys773HisfsTer?
NM_000251.2:c.2317_2333del , LRG_218t1:c.2317_2333del	NP_000242.1:p.Lys773HisfsTer8
NM_001258281.1:c.2119_2135del	NP_001245210.1:p.Lys707HisfsTer8
XM_005264332.2:c.2317_2333del	XP_005264389.2:p.Lys773HisfsTer8
XM_011532867.1:c.2317_2333del	XP_011531169.1:p.Lys773HisfsTer8
XR_939685.1:n.2389_2405del
XM_005264332.4:c.2317_2333del	XP_005264389.2:p.Lys773HisfsTer8
XM_011532867.2:c.2317_2333del	XP_011531169.1:p.Lys773HisfsTer8
XR_001738747.2:n.2379_2395del
XR_939685.2:n.2379_2395del
NM_000251.3:c.2317_2333del MANE Select	NP_000242.1:p.Lys773HisfsTer8