Canonical Allele Identifier: CA022343

Gene: MSH2

Linked Data

• ClinVar Variation Id: 91221
• ClinVar RCV Id: RCV000076725 ; RCV002415569 ; RCV003452967
• dbSNP Id: rs63751133
• MyVariant Identifiers: chr2:g.47641425_47641426del (hg19) ; chr2:g.47414286_47414287del (hg38)
• PubMed: PMID:15217520 ; PMID:15849733

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47414286_47414287del , CM000664.2:g.47414286_47414287del	GRCh38
NC_000002.11:g.47641425_47641426del , CM000664.1:g.47641425_47641426del	GRCh37
NC_000002.10:g.47494929_47494930del	NCBI36
NG_007110.2:g.16163_16164del , LRG_218:g.16163_16164del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.810_811del	ENSP00000495641.2:p.Ser271CysfsTer12
ENST00000233146.7:c.810_811del MANE Select	ENSP00000233146.2:p.Ser271CysfsTer12
ENST00000543555.6:c.612_613del	ENSP00000442697.1:p.Ser205CysfsTer12
ENST00000644092.1:c.810_811del	ENSP00000496351.1:p.Ser271CysfsTer12
ENST00000645339.1:c.810_811del	ENSP00000496441.1:p.Ser271CysfsTer12
ENST00000645506.1:c.810_811del	ENSP00000495455.1:p.Ser271CysfsTer12
ENST00000646415.1:c.810_811del	ENSP00000495543.1:p.Ser271CysfsTer12
ENST00000233146.6:c.810_811del	ENSP00000233146.2:p.Ser271CysfsTer12
ENST00000406134.5:c.810_811del	ENSP00000384199.1:p.Ser271CysfsTer12
ENST00000543555.5:c.612_613del	ENSP00000442697.1:p.Ser205CysfsTer12
ENST00000610696.4:c.810_811del	ENSP00000483159.1:p.Ser271CysfsTer12
ENST00000613514.4:c.810_811del	ENSP00000484137.1:p.Ser271CysfsTer12
ENST00000617333.3:c.810_811del	ENSP00000482468.1:p.Ser271CysfsTer12
ENST00000617938.4:c.810_811del	ENSP00000481158.1:p.Ser271CysfsTer12
ENST00000621359.2:c.810_811del	ENSP00000481416.1:p.Ser271CysfsTer12
NM_000251.2:c.810_811del , LRG_218t1:c.810_811del	NP_000242.1:p.Ser271CysfsTer12
NM_001258281.1:c.612_613del	NP_001245210.1:p.Ser205CysfsTer12
XM_005264332.2:c.810_811del	XP_005264389.2:p.Ser271CysfsTer12
XM_011532867.1:c.810_811del	XP_011531169.1:p.Ser271CysfsTer12
XR_939685.1:n.882_883del
XM_005264332.4:c.810_811del	XP_005264389.2:p.Ser271CysfsTer12
XM_011532867.2:c.810_811del	XP_011531169.1:p.Ser271CysfsTer12
XR_001738747.2:n.872_873del
XR_939685.2:n.872_873del
NM_000251.3:c.810_811del MANE Select	NP_000242.1:p.Ser271CysfsTer12