Canonical Allele Identifier: CA020705

Gene: MSH2

Linked Data

• ClinVar Variation Id: 90997
• ClinVar RCV Id: RCV000076499 ; RCV001854330 ; RCV002426637
• dbSNP Id: rs587779149
• MyVariant Identifiers: chr2:g.47707921del (hg19) ; chr2:g.47480782del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47480782del , CM000664.2:g.47480782del	GRCh38
NC_000002.11:g.47707921del , CM000664.1:g.47707921del	GRCh37
NC_000002.10:g.47561425del	NCBI36
NG_007110.2:g.82659del , LRG_218:g.82659del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2545del	ENSP00000495641.2:p.Leu849TrpfsTer?
ENST00000233146.7:c.2545del MANE Select	ENSP00000233146.2:p.Leu849TrpfsTer?
ENST00000543555.6:c.2347del	ENSP00000442697.1:p.Leu783TrpfsTer?
ENST00000644092.1:c.*845del	ENSP00000496351.1:n.*845del
ENST00000644900.1:c.398del
ENST00000645339.1:c.2545del	ENSP00000496441.1:p.Leu849TrpfsTer?
ENST00000645506.1:c.2545del	ENSP00000495455.1:p.Leu849TrpfsTer?
ENST00000646415.1:c.2545del	ENSP00000495543.1:p.Leu849TrpfsTer?
ENST00000233146.6:c.2545del	ENSP00000233146.2:p.Leu849TrpfsTer?
ENST00000406134.5:c.2545del	ENSP00000384199.1:p.Leu849TrpfsTer?
ENST00000543555.5:c.2347del	ENSP00000442697.1:p.Leu783TrpfsTer?
ENST00000610696.4:c.*941del	ENSP00000483159.1:n.*941del
ENST00000613514.4:c.*1085del	ENSP00000484137.1:n.*1085del
ENST00000617333.3:c.*1311del	ENSP00000482468.1:n.*1311del
ENST00000617938.4:c.*1517del	ENSP00000481158.1:n.*1517del
ENST00000621359.2:c.*111del	ENSP00000481416.1:n.*111del
NM_000251.2:c.2545del , LRG_218t1:c.2545del	NP_000242.1:p.Leu849TrpfsTer?
NM_001258281.1:c.2347del	NP_001245210.1:p.Leu783TrpfsTer?
XM_005264332.2:c.2545del	XP_005264389.2:p.Leu849TrpfsTer?
XM_011532867.1:c.2545del	XP_011531169.1:p.Leu849TrpfsTer?
XR_939685.1:n.2617del
XM_005264332.4:c.2545del	XP_005264389.2:p.Leu849TrpfsTer?
XM_011532867.2:c.2545del	XP_011531169.1:p.Leu849TrpfsTer?
XR_001738747.2:n.2607del
XR_939685.2:n.2607del
NM_000251.3:c.2545del MANE Select	NP_000242.1:p.Leu849TrpfsTer?