Canonical Allele Identifier: CA46690820

Gene: MSH2

Linked Data

• dbSNP Id: rs63751324
• MyVariant Identifiers: chr2:g.47698110del (hg19) ; chr2:g.47470971del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47470971del , CM000664.2:g.47470971del	GRCh38
NC_000002.11:g.47698110del , CM000664.1:g.47698110del	GRCh37
NC_000002.10:g.47551614del	NCBI36
NG_007110.2:g.72848del , LRG_218:g.72848del

Transcript Alleles

HGVS	Amino-acid change
ENST00000644900.2:c.1668del	ENSP00000495641.2:p.Thr557LeufsTer3
ENST00000233146.7:c.1668del MANE Select	ENSP00000233146.2:p.Thr557LeufsTer3
ENST00000543555.6:c.1470del	ENSP00000442697.1:p.Thr491LeufsTer3
ENST00000644092.1:c.1662-17del	ENSP00000496351.1:n.1662-17del
ENST00000645339.1:c.1668del	ENSP00000496441.1:p.Thr557LeufsTer3
ENST00000645506.1:c.1668del	ENSP00000495455.1:p.Thr557LeufsTer3
ENST00000646415.1:c.1668del	ENSP00000495543.1:p.Thr557LeufsTer3
ENST00000233146.6:c.1668del	ENSP00000233146.2:p.Thr557LeufsTer3
ENST00000406134.5:c.1668del	ENSP00000384199.1:p.Thr557LeufsTer3
ENST00000543555.5:c.1470del	ENSP00000442697.1:p.Thr491LeufsTer3
ENST00000610696.4:c.*64del	ENSP00000483159.1:n.*64del
ENST00000613514.4:c.*208del	ENSP00000484137.1:n.*208del
ENST00000617333.3:c.*434del	ENSP00000482468.1:n.*434del
ENST00000617938.4:c.*640del	ENSP00000481158.1:n.*640del
ENST00000621359.2:c.1668del	ENSP00000481416.1:p.Thr557LeufsTer3
NM_000251.2:c.1668del , LRG_218t1:c.1668del	NP_000242.1:p.Thr557LeufsTer3
NM_001258281.1:c.1470del	NP_001245210.1:p.Thr491LeufsTer3
XM_005264332.2:c.1668del	XP_005264389.2:p.Thr557LeufsTer3
XM_011532867.1:c.1668del	XP_011531169.1:p.Thr557LeufsTer3
XR_939685.1:n.1740del
XM_005264332.4:c.1668del	XP_005264389.2:p.Thr557LeufsTer3
XM_011532867.2:c.1668del	XP_011531169.1:p.Thr557LeufsTer3
XR_001738747.2:n.1730del
XR_939685.2:n.1730del
NM_000251.3:c.1668del MANE Select	NP_000242.1:p.Thr557LeufsTer3