Canonical Allele Identifier: CA16610813

Gene: MSH2

Linked Data

• ClinVar Variation Id: 408559
• ClinVar RCV Id: RCV000473024
• dbSNP Id: rs1060502039
• MyVariant Identifiers: chr2:g.47702200del (hg19) ; chr2:g.47475061del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47475061del , CM000664.2:g.47475061del	GRCh38
NC_000002.11:g.47702200del , CM000664.1:g.47702200del	GRCh37
NC_000002.10:g.47555704del	NCBI36
NG_007110.2:g.76938del , LRG_218:g.76938del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1796del	ENSP00000495641.2:p.Leu599Ter
ENST00000233146.7:c.1796del MANE Select	ENSP00000233146.2:p.Leu599Ter
ENST00000543555.6:c.1598del	ENSP00000442697.1:p.Leu533Ter
ENST00000644092.1:c.*96del	ENSP00000496351.1:n.*96del
ENST00000645339.1:c.1796del	ENSP00000496441.1:p.Leu599Ter
ENST00000645506.1:c.1796del	ENSP00000495455.1:p.Leu599Ter
ENST00000646415.1:c.1796del	ENSP00000495543.1:p.Leu599Ter
ENST00000233146.6:c.1796del	ENSP00000233146.2:p.Leu599Ter
ENST00000406134.5:c.1796del	ENSP00000384199.1:p.Leu599Ter
ENST00000543555.5:c.1598del	ENSP00000442697.1:p.Leu533Ter
ENST00000610696.4:c.*192del	ENSP00000483159.1:n.*192del
ENST00000613514.4:c.*336del	ENSP00000484137.1:n.*336del
ENST00000617333.3:c.*562del	ENSP00000482468.1:n.*562del
ENST00000617938.4:c.*768del	ENSP00000481158.1:n.*768del
ENST00000621359.2:c.1796del	ENSP00000481416.1:p.Leu599Ter
NM_000251.2:c.1796del , LRG_218t1:c.1796del	NP_000242.1:p.Leu599Ter
NM_001258281.1:c.1598del	NP_001245210.1:p.Leu533Ter
XM_005264332.2:c.1796del	XP_005264389.2:p.Leu599Ter
XM_011532867.1:c.1796del	XP_011531169.1:p.Leu599Ter
XR_939685.1:n.1868del
XM_005264332.4:c.1796del	XP_005264389.2:p.Leu599Ter
XM_011532867.2:c.1796del	XP_011531169.1:p.Leu599Ter
XR_001738747.2:n.1858del
XR_939685.2:n.1858del
NM_000251.3:c.1796del MANE Select	NP_000242.1:p.Leu599Ter