Canonical Allele Identifier: CA2580066829

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1788779
• ClinVar RCV Id: RCV002443888

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478331dup , CM000664.2:g.47478331dup	GRCh38
NC_000002.11:g.47705470dup , CM000664.1:g.47705470dup	GRCh37
NC_000002.10:g.47558974dup	NCBI36
NG_007110.2:g.80208dup , LRG_218:g.80208dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2270dup	ENSP00000495641.2:p.Tyr757Ter
ENST00000233146.7:c.2270dup MANE Select	ENSP00000233146.2:p.Tyr757Ter
ENST00000543555.6:c.2072dup	ENSP00000442697.1:p.Tyr691Ter
ENST00000644092.1:c.*570dup	ENSP00000496351.1:n.*570dup
ENST00000644900.1:c.123dup
ENST00000645339.1:c.2270dup	ENSP00000496441.1:p.Tyr757Ter
ENST00000645506.1:c.2270dup	ENSP00000495455.1:p.Tyr757Ter
ENST00000646415.1:c.2270dup	ENSP00000495543.1:p.Tyr757Ter
ENST00000233146.6:c.2270dup	ENSP00000233146.2:p.Tyr757Ter
ENST00000406134.5:c.2270dup	ENSP00000384199.1:p.Tyr757Ter
ENST00000543555.5:c.2072dup	ENSP00000442697.1:p.Tyr691Ter
ENST00000610696.4:c.*666dup	ENSP00000483159.1:n.*666dup
ENST00000613514.4:c.*810dup	ENSP00000484137.1:n.*810dup
ENST00000617333.3:c.*1036dup	ENSP00000482468.1:n.*1036dup
ENST00000617938.4:c.*1242dup	ENSP00000481158.1:n.*1242dup
ENST00000621359.2:c.2270dup	ENSP00000481416.1:p.Tyr757Ter
NM_000251.2:c.2270dup , LRG_218t1:c.2270dup	NP_000242.1:p.Tyr757Ter
NM_001258281.1:c.2072dup	NP_001245210.1:p.Tyr691Ter
XM_005264332.2:c.2270dup	XP_005264389.2:p.Tyr757Ter
XM_011532867.1:c.2270dup	XP_011531169.1:p.Tyr757Ter
XR_939685.1:n.2342dup
XM_005264332.4:c.2270dup	XP_005264389.2:p.Tyr757Ter
XM_011532867.2:c.2270dup	XP_011531169.1:p.Tyr757Ter
XR_001738747.2:n.2332dup
XR_939685.2:n.2332dup
NM_000251.3:c.2270dup MANE Select	NP_000242.1:p.Tyr757Ter