Canonical Allele Identifier: CA645369156

Gene: MSH2

Linked Data

• ClinVar Variation Id: 428548
• ClinVar RCV Id: RCV000491905
• dbSNP Id: rs1114167876
• MyVariant Identifiers: chr2:g.47702213dup (hg19) ; chr2:g.47475074dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47475074dup , CM000664.2:g.47475074dup	GRCh38
NC_000002.11:g.47702213dup , CM000664.1:g.47702213dup	GRCh37
NC_000002.10:g.47555717dup	NCBI36
NG_007110.2:g.76951dup , LRG_218:g.76951dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1809dup	ENSP00000495641.2:p.Ala604CysfsTer?
ENST00000233146.7:c.1809dup MANE Select	ENSP00000233146.2:p.Ala604CysfsTer?
ENST00000543555.6:c.1611dup	ENSP00000442697.1:p.Ala538CysfsTer?
ENST00000644092.1:c.*109dup	ENSP00000496351.1:n.*109dup
ENST00000645339.1:c.1809dup	ENSP00000496441.1:p.Ala604CysfsTer?
ENST00000645506.1:c.1809dup	ENSP00000495455.1:p.Ala604CysfsTer?
ENST00000646415.1:c.1809dup	ENSP00000495543.1:p.Ala604CysfsTer?
ENST00000233146.6:c.1809dup	ENSP00000233146.2:p.Ala604CysfsTer?
ENST00000406134.5:c.1809dup	ENSP00000384199.1:p.Ala604CysfsTer?
ENST00000543555.5:c.1611dup	ENSP00000442697.1:p.Ala538CysfsTer?
ENST00000610696.4:c.*205dup	ENSP00000483159.1:n.*205dup
ENST00000613514.4:c.*349dup	ENSP00000484137.1:n.*349dup
ENST00000617333.3:c.*575dup	ENSP00000482468.1:n.*575dup
ENST00000617938.4:c.*781dup	ENSP00000481158.1:n.*781dup
ENST00000621359.2:c.1809dup	ENSP00000481416.1:p.Ala604CysfsTer?
NM_000251.2:c.1809dup , LRG_218t1:c.1809dup	NP_000242.1:p.Ala604CysfsTer?
NM_001258281.1:c.1611dup	NP_001245210.1:p.Ala538CysfsTer?
XM_005264332.2:c.1809dup	XP_005264389.2:p.Ala604CysfsTer?
XM_011532867.1:c.1809dup	XP_011531169.1:p.Ala604CysfsTer?
XR_939685.1:n.1881dup
XM_005264332.4:c.1809dup	XP_005264389.2:p.Ala604CysfsTer?
XM_011532867.2:c.1809dup	XP_011531169.1:p.Ala604CysfsTer?
XR_001738747.2:n.1871dup
XR_939685.2:n.1871dup
NM_000251.3:c.1809dup MANE Select	NP_000242.1:p.Ala604CysfsTer?