Canonical Allele Identifier: CA019373

Gene: MSH2

Linked Data

• ClinVar Variation Id: 90793
• ClinVar RCV Id: RCV000491246
• dbSNP Id: rs267607978
• MyVariant Identifiers: chr2:g.47702219_47702221del (hg19) ; chr2:g.47475080_47475082del (hg38)
• PubMed: PMID:14668545 ; PMID:17531815 ; PMID:18772310 ; PMID:19254532 ; PMID:23056405

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47475080_47475082del , CM000664.2:g.47475080_47475082del	GRCh38
NC_000002.11:g.47702219_47702221del , CM000664.1:g.47702219_47702221del	GRCh37
NC_000002.10:g.47555723_47555725del	NCBI36
NG_007110.2:g.76957_76959del , LRG_218:g.76957_76959del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1815_1817del	ENSP00000495641.2:p.Val606del
ENST00000233146.7:c.1815_1817del MANE Select	ENSP00000233146.2:p.Val606del
ENST00000543555.6:c.1617_1619del	ENSP00000442697.1:p.Val540del
ENST00000644092.1:c.*115_*117del	ENSP00000496351.1:n.*115_*117del
ENST00000645339.1:c.1815_1817del	ENSP00000496441.1:p.Val606del
ENST00000645506.1:c.1815_1817del	ENSP00000495455.1:p.Val606del
ENST00000646415.1:c.1815_1817del	ENSP00000495543.1:p.Val606del
ENST00000233146.6:c.1815_1817del	ENSP00000233146.2:p.Val606del
ENST00000406134.5:c.1815_1817del	ENSP00000384199.1:p.Val606del
ENST00000543555.5:c.1617_1619del	ENSP00000442697.1:p.Val540del
ENST00000610696.4:c.*211_*213del	ENSP00000483159.1:n.*211_*213del
ENST00000613514.4:c.*355_*357del	ENSP00000484137.1:n.*355_*357del
ENST00000617333.3:c.*581_*583del	ENSP00000482468.1:n.*581_*583del
ENST00000617938.4:c.*787_*789del	ENSP00000481158.1:n.*787_*789del
ENST00000621359.2:c.1815_1817del	ENSP00000481416.1:p.Val606del
NM_000251.2:c.1815_1817del , LRG_218t1:c.1815_1817del	NP_000242.1:p.Val606del
NM_001258281.1:c.1617_1619del	NP_001245210.1:p.Val540del
XM_005264332.2:c.1815_1817del	XP_005264389.2:p.Val606del
XM_011532867.1:c.1815_1817del	XP_011531169.1:p.Val606del
XR_939685.1:n.1887_1889del
XM_005264332.4:c.1815_1817del	XP_005264389.2:p.Val606del
XM_011532867.2:c.1815_1817del	XP_011531169.1:p.Val606del
XR_001738747.2:n.1877_1879del
XR_939685.2:n.1877_1879del
NM_000251.3:c.1815_1817del MANE Select	NP_000242.1:p.Val606del