Canonical Allele Identifier: CA46690824

Gene: MSH2

Linked Data

• dbSNP Id: rs63751303

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47470975del , CM000664.2:g.47470975del	GRCh38
NC_000002.11:g.47698114del , CM000664.1:g.47698114del	GRCh37
NC_000002.10:g.47551618del	NCBI36
NG_007110.2:g.72852del , LRG_218:g.72852del

Transcript Alleles

HGVS	Amino-acid change
ENST00000644900.2:c.1672del	ENSP00000495641.2:p.Ser558LeufsTer2
ENST00000233146.7:c.1672del MANE Select	ENSP00000233146.2:p.Ser558LeufsTer2
ENST00000543555.6:c.1474del	ENSP00000442697.1:p.Ser492LeufsTer2
ENST00000644092.1:c.1662-13del	ENSP00000496351.1:n.1662-13del
ENST00000645339.1:c.1672del	ENSP00000496441.1:p.Ser558LeufsTer2
ENST00000645506.1:c.1672del	ENSP00000495455.1:p.Ser558LeufsTer2
ENST00000646415.1:c.1672del	ENSP00000495543.1:p.Ser558LeufsTer2
ENST00000233146.6:c.1672del	ENSP00000233146.2:p.Ser558LeufsTer2
ENST00000406134.5:c.1672del	ENSP00000384199.1:p.Ser558LeufsTer2
ENST00000543555.5:c.1474del	ENSP00000442697.1:p.Ser492LeufsTer2
ENST00000610696.4:c.*68del	ENSP00000483159.1:n.*68del
ENST00000613514.4:c.*212del	ENSP00000484137.1:n.*212del
ENST00000617333.3:c.*438del	ENSP00000482468.1:n.*438del
ENST00000617938.4:c.*644del	ENSP00000481158.1:n.*644del
ENST00000621359.2:c.1672del	ENSP00000481416.1:p.Ser558LeufsTer2
NM_000251.2:c.1672del , LRG_218t1:c.1672del	NP_000242.1:p.Ser558LeufsTer2
NM_001258281.1:c.1474del	NP_001245210.1:p.Ser492LeufsTer2
XM_005264332.2:c.1672del	XP_005264389.2:p.Ser558LeufsTer2
XM_011532867.1:c.1672del	XP_011531169.1:p.Ser558LeufsTer2
XR_939685.1:n.1744del
XM_005264332.4:c.1672del	XP_005264389.2:p.Ser558LeufsTer2
XM_011532867.2:c.1672del	XP_011531169.1:p.Ser558LeufsTer2
XR_001738747.2:n.1734del
XR_939685.2:n.1734del
NM_000251.3:c.1672del MANE Select	NP_000242.1:p.Ser558LeufsTer2