Canonical Allele Identifier: CA658655713

Gene: MSH2

Linked Data

• ClinVar Variation Id: 486875
• ClinVar RCV Id: RCV003451282 ; RCV000570154 ; RCV001381414
• dbSNP Id: rs1553368675
• MyVariant Identifiers: chr2:g.47702346_47702349del (hg19) ; chr2:g.47475207_47475210del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47475207_47475210del , CM000664.2:g.47475207_47475210del	GRCh38
NC_000002.11:g.47702346_47702349del , CM000664.1:g.47702346_47702349del	GRCh37
NC_000002.10:g.47555850_47555853del	NCBI36
NG_007110.2:g.77084_77087del , LRG_218:g.77084_77087del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1942_1945del	ENSP00000495641.2:p.Ile648HisfsTer?
ENST00000233146.7:c.1942_1945del MANE Select	ENSP00000233146.2:p.Ile648HisfsTer?
ENST00000543555.6:c.1744_1747del	ENSP00000442697.1:p.Ile582HisfsTer?
ENST00000644092.1:c.*242_*245del	ENSP00000496351.1:n.*242_*245del
ENST00000645339.1:c.1942_1945del	ENSP00000496441.1:p.Ile648HisfsTer?
ENST00000645506.1:c.1942_1945del	ENSP00000495455.1:p.Ile648HisfsTer?
ENST00000646415.1:c.1942_1945del	ENSP00000495543.1:p.Ile648HisfsTer?
ENST00000233146.6:c.1942_1945del	ENSP00000233146.2:p.Ile648HisfsTer?
ENST00000406134.5:c.1942_1945del	ENSP00000384199.1:p.Ile648HisfsTer?
ENST00000543555.5:c.1744_1747del	ENSP00000442697.1:p.Ile582HisfsTer?
ENST00000610696.4:c.*338_*341del	ENSP00000483159.1:n.*338_*341del
ENST00000613514.4:c.*482_*485del	ENSP00000484137.1:n.*482_*485del
ENST00000617333.3:c.*708_*711del	ENSP00000482468.1:n.*708_*711del
ENST00000617938.4:c.*914_*917del	ENSP00000481158.1:n.*914_*917del
ENST00000621359.2:c.1942_1945del	ENSP00000481416.1:p.Ile648HisfsTer?
NM_000251.2:c.1942_1945del , LRG_218t1:c.1942_1945del	NP_000242.1:p.Ile648HisfsTer?
NM_001258281.1:c.1744_1747del	NP_001245210.1:p.Ile582HisfsTer?
XM_005264332.2:c.1942_1945del	XP_005264389.2:p.Ile648HisfsTer?
XM_011532867.1:c.1942_1945del	XP_011531169.1:p.Ile648HisfsTer?
XR_939685.1:n.2014_2017del
XM_005264332.4:c.1942_1945del	XP_005264389.2:p.Ile648HisfsTer?
XM_011532867.2:c.1942_1945del	XP_011531169.1:p.Ile648HisfsTer?
XR_001738747.2:n.2004_2007del
XR_939685.2:n.2004_2007del
NM_000251.3:c.1942_1945del MANE Select	NP_000242.1:p.Ile648HisfsTer?