Canonical Allele Identifier: CA891842727

Gene: MSH2

Linked Data

• ClinVar Variation Id: 572242
• ClinVar RCV Id: RCV000693578
• dbSNP Id: rs1558521949
• MyVariant Identifiers: chr2:g.47705569del (hg19) ; chr2:g.47478430del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478430del , CM000664.2:g.47478430del	GRCh38
NC_000002.11:g.47705569del , CM000664.1:g.47705569del	GRCh37
NC_000002.10:g.47559073del	NCBI36
NG_007110.2:g.80307del , LRG_218:g.80307del

Transcript Alleles

HGVS	Amino-acid change
ENST00000644900.2:c.2369del	ENSP00000495641.2:p.Leu790TrpfsTer22
ENST00000233146.7:c.2369del MANE Select	ENSP00000233146.2:p.Leu790TrpfsTer22
ENST00000543555.6:c.2171del	ENSP00000442697.1:p.Leu724TrpfsTer22
ENST00000644092.1:c.*669del	ENSP00000496351.1:n.*669del
ENST00000644900.1:c.222del
ENST00000645339.1:c.2369del	ENSP00000496441.1:p.Leu790TrpfsTer22
ENST00000645506.1:c.2369del	ENSP00000495455.1:p.Leu790TrpfsTer22
ENST00000646415.1:c.2369del	ENSP00000495543.1:p.Leu790TrpfsTer22
ENST00000233146.6:c.2369del	ENSP00000233146.2:p.Leu790TrpfsTer22
ENST00000406134.5:c.2369del	ENSP00000384199.1:p.Leu790TrpfsTer22
ENST00000543555.5:c.2171del	ENSP00000442697.1:p.Leu724TrpfsTer22
ENST00000610696.4:c.*765del	ENSP00000483159.1:n.*765del
ENST00000613514.4:c.*909del	ENSP00000484137.1:n.*909del
ENST00000617333.3:c.*1135del	ENSP00000482468.1:n.*1135del
ENST00000617938.4:c.*1341del	ENSP00000481158.1:n.*1341del
ENST00000621359.2:c.2368del	ENSP00000481416.1:p.Trp790GlyfsTer8
NM_000251.2:c.2369del , LRG_218t1:c.2369del	NP_000242.1:p.Leu790TrpfsTer22
NM_001258281.1:c.2171del	NP_001245210.1:p.Leu724TrpfsTer22
XM_005264332.2:c.2369del	XP_005264389.2:p.Leu790TrpfsTer22
XM_011532867.1:c.2369del	XP_011531169.1:p.Leu790TrpfsTer22
XR_939685.1:n.2441del
XM_005264332.4:c.2369del	XP_005264389.2:p.Leu790TrpfsTer22
XM_011532867.2:c.2369del	XP_011531169.1:p.Leu790TrpfsTer22
XR_001738747.2:n.2431del
XR_939685.2:n.2431del
NM_000251.3:c.2369del MANE Select	NP_000242.1:p.Leu790TrpfsTer22