Canonical Allele Identifier: CA645372541

Gene: MSH2

Linked Data

• ClinVar Variation Id: 433886
• ClinVar RCV Id: RCV000500942
• dbSNP Id: rs1553366561
• MyVariant Identifiers: chr2:g.47693846dup (hg19) ; chr2:g.47466707dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47466707dup , CM000664.2:g.47466707dup	GRCh38
NC_000002.11:g.47693846dup , CM000664.1:g.47693846dup	GRCh37
NC_000002.10:g.47547350dup	NCBI36
NG_007110.2:g.68584dup , LRG_218:g.68584dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1560dup	ENSP00000495641.2:p.Tyr521IlefsTer8
ENST00000233146.7:c.1560dup MANE Select	ENSP00000233146.2:p.Tyr521IlefsTer8
ENST00000543555.6:c.1362dup	ENSP00000442697.1:p.Tyr455IlefsTer8
ENST00000644092.1:c.1560dup	ENSP00000496351.1:p.Tyr521IlefsTer8
ENST00000645339.1:c.1560dup	ENSP00000496441.1:p.Tyr521IlefsTer8
ENST00000645506.1:c.1560dup	ENSP00000495455.1:p.Tyr521IlefsTer8
ENST00000646415.1:c.1560dup	ENSP00000495543.1:p.Tyr521IlefsTer8
ENST00000233146.6:c.1560dup	ENSP00000233146.2:p.Tyr521IlefsTer8
ENST00000406134.5:c.1560dup	ENSP00000384199.1:p.Tyr521IlefsTer8
ENST00000543555.5:c.1362dup	ENSP00000442697.1:p.Tyr455IlefsTer8
ENST00000610696.4:c.1560dup	ENSP00000483159.1:p.Tyr521IlefsTer8
ENST00000613514.4:c.*100dup	ENSP00000484137.1:n.*100dup
ENST00000617333.3:c.*326dup	ENSP00000482468.1:n.*326dup
ENST00000617938.4:c.*532dup	ENSP00000481158.1:n.*532dup
ENST00000621359.2:c.1560dup	ENSP00000481416.1:p.Tyr521IlefsTer8
NM_000251.2:c.1560dup , LRG_218t1:c.1560dup	NP_000242.1:p.Tyr521IlefsTer8
NM_001258281.1:c.1362dup	NP_001245210.1:p.Tyr455IlefsTer8
XM_005264332.2:c.1560dup	XP_005264389.2:p.Tyr521IlefsTer8
XM_011532867.1:c.1560dup	XP_011531169.1:p.Tyr521IlefsTer8
XR_939685.1:n.1632dup
XM_005264332.4:c.1560dup	XP_005264389.2:p.Tyr521IlefsTer8
XM_011532867.2:c.1560dup	XP_011531169.1:p.Tyr521IlefsTer8
XR_001738747.2:n.1622dup
XR_939685.2:n.1622dup
NM_000251.3:c.1560dup MANE Select	NP_000242.1:p.Tyr521IlefsTer8