Canonical Allele Identifier: CA022080

Gene: MSH2

Linked Data

• ClinVar Variation Id: 91184
• ClinVar RCV Id: RCV000076688
• dbSNP Id: rs63751288
• MyVariant Identifiers: chr2:g.47639618_47639621del (hg19) ; chr2:g.47412479_47412482del (hg38)
• PubMed: PMID:15849733

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47412479_47412482del , CM000664.2:g.47412479_47412482del	GRCh38
NC_000002.11:g.47639618_47639621del , CM000664.1:g.47639618_47639621del	GRCh37
NC_000002.10:g.47493122_47493125del	NCBI36
NG_007110.2:g.14356_14359del , LRG_218:g.14356_14359del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.711_714del	ENSP00000495641.2:p.Tyr238ArgfsTer7
ENST00000233146.7:c.711_714del MANE Select	ENSP00000233146.2:p.Tyr238ArgfsTer7
ENST00000543555.6:c.513_516del	ENSP00000442697.1:p.Tyr172ArgfsTer7
ENST00000644092.1:c.711_714del	ENSP00000496351.1:p.Tyr238ArgfsTer7
ENST00000645339.1:c.711_714del	ENSP00000496441.1:p.Tyr238ArgfsTer7
ENST00000645506.1:c.711_714del	ENSP00000495455.1:p.Tyr238ArgfsTer7
ENST00000646415.1:c.711_714del	ENSP00000495543.1:p.Tyr238ArgfsTer7
ENST00000233146.6:c.711_714del	ENSP00000233146.2:p.Tyr238ArgfsTer7
ENST00000406134.5:c.711_714del	ENSP00000384199.1:p.Tyr238ArgfsTer7
ENST00000543555.5:c.513_516del	ENSP00000442697.1:p.Tyr172ArgfsTer7
ENST00000610696.4:c.711_714del	ENSP00000483159.1:p.Tyr238ArgfsTer7
ENST00000613514.4:c.711_714del	ENSP00000484137.1:p.Tyr238ArgfsTer7
ENST00000617333.3:c.711_714del	ENSP00000482468.1:p.Tyr238ArgfsTer7
ENST00000617938.4:c.711_714del	ENSP00000481158.1:p.Tyr238ArgfsTer7
ENST00000621359.2:c.711_714del	ENSP00000481416.1:p.Tyr238ArgfsTer7
NM_000251.2:c.711_714del , LRG_218t1:c.711_714del	NP_000242.1:p.Tyr238ArgfsTer7
NM_001258281.1:c.513_516del	NP_001245210.1:p.Tyr172ArgfsTer7
XM_005264332.2:c.711_714del	XP_005264389.2:p.Tyr238ArgfsTer7
XM_011532867.1:c.711_714del	XP_011531169.1:p.Tyr238ArgfsTer7
XR_939685.1:n.783_786del
XM_005264332.4:c.711_714del	XP_005264389.2:p.Tyr238ArgfsTer7
XM_011532867.2:c.711_714del	XP_011531169.1:p.Tyr238ArgfsTer7
XR_001738747.2:n.773_776del
XR_939685.2:n.773_776del
NM_000251.3:c.711_714del MANE Select	NP_000242.1:p.Tyr238ArgfsTer7