Canonical Allele Identifier: CA645369211

Gene: MSH2

Linked Data

• ClinVar Variation Id: 428499
• ClinVar RCV Id: RCV000490846 ; RCV003449363
• dbSNP Id: rs1114167837
• MyVariant Identifiers: chr2:g.47705613dup (hg19) ; chr2:g.47478474dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478474dup , CM000664.2:g.47478474dup	GRCh38
NC_000002.11:g.47705613dup , CM000664.1:g.47705613dup	GRCh37
NC_000002.10:g.47559117dup	NCBI36
NG_007110.2:g.80351dup , LRG_218:g.80351dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2413dup	ENSP00000495641.2:p.Leu805ProfsTer4
ENST00000233146.7:c.2413dup MANE Select	ENSP00000233146.2:p.Leu805ProfsTer4
ENST00000543555.6:c.2215dup	ENSP00000442697.1:p.Leu739ProfsTer4
ENST00000644092.1:c.*713dup	ENSP00000496351.1:n.*713dup
ENST00000644900.1:c.266dup
ENST00000645339.1:c.2413dup	ENSP00000496441.1:p.Leu805ProfsTer4
ENST00000645506.1:c.2413dup	ENSP00000495455.1:p.Leu805ProfsTer4
ENST00000646415.1:c.2413dup	ENSP00000495543.1:p.Leu805ProfsTer4
ENST00000233146.6:c.2413dup	ENSP00000233146.2:p.Leu805ProfsTer4
ENST00000406134.5:c.2413dup	ENSP00000384199.1:p.Leu805ProfsTer4
ENST00000543555.5:c.2215dup	ENSP00000442697.1:p.Leu739ProfsTer4
ENST00000610696.4:c.*809dup	ENSP00000483159.1:n.*809dup
ENST00000613514.4:c.*953dup	ENSP00000484137.1:n.*953dup
ENST00000617333.3:c.*1179dup	ENSP00000482468.1:n.*1179dup
ENST00000617938.4:c.*1385dup	ENSP00000481158.1:n.*1385dup
ENST00000621359.2:c.2412dup	ENSP00000481416.1:p.Ser805LeufsTer?
NM_000251.2:c.2413dup , LRG_218t1:c.2413dup	NP_000242.1:p.Leu805ProfsTer4
NM_001258281.1:c.2215dup	NP_001245210.1:p.Leu739ProfsTer4
XM_005264332.2:c.2413dup	XP_005264389.2:p.Leu805ProfsTer4
XM_011532867.1:c.2413dup	XP_011531169.1:p.Leu805ProfsTer4
XR_939685.1:n.2485dup
XM_005264332.4:c.2413dup	XP_005264389.2:p.Leu805ProfsTer4
XM_011532867.2:c.2413dup	XP_011531169.1:p.Leu805ProfsTer4
XR_001738747.2:n.2475dup
XR_939685.2:n.2475dup
NM_000251.3:c.2413dup MANE Select	NP_000242.1:p.Leu805ProfsTer4