Canonical Allele Identifier: CA020200

Gene: MSH2

Linked Data

• dbSNP Id: rs63750562
• MyVariant Identifiers: chr2:g.47703694_47703696del (hg19) ; chr2:g.47476555_47476557del (hg38)
• PubMed: PMID:16288214

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47476555_47476557del , CM000664.2:g.47476555_47476557del	GRCh38
NC_000002.11:g.47703694_47703696del , CM000664.1:g.47703694_47703696del	GRCh37
NC_000002.10:g.47557198_47557200del	NCBI36
NG_007110.2:g.78432_78434del , LRG_218:g.78432_78434del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2194_2196del	ENSP00000495641.2:p.Thr732del
ENST00000233146.7:c.2194_2196del MANE Select	ENSP00000233146.2:p.Thr732del
ENST00000543555.6:c.1996_1998del	ENSP00000442697.1:p.Thr666del
ENST00000644092.1:c.*494_*496del	ENSP00000496351.1:n.*494_*496del
ENST00000644900.1:c.47_49del
ENST00000645339.1:c.2194_2196del	ENSP00000496441.1:p.Thr732del
ENST00000645506.1:c.2194_2196del	ENSP00000495455.1:p.Thr732del
ENST00000646415.1:c.2194_2196del	ENSP00000495543.1:p.Thr732del
ENST00000233146.6:c.2194_2196del	ENSP00000233146.2:p.Thr732del
ENST00000406134.5:c.2194_2196del	ENSP00000384199.1:p.Thr732del
ENST00000543555.5:c.1996_1998del	ENSP00000442697.1:p.Thr666del
ENST00000610696.4:c.*590_*592del	ENSP00000483159.1:n.*590_*592del
ENST00000613514.4:c.*734_*736del	ENSP00000484137.1:n.*734_*736del
ENST00000617333.3:c.*960_*962del	ENSP00000482468.1:n.*960_*962del
ENST00000617938.4:c.*1166_*1168del	ENSP00000481158.1:n.*1166_*1168del
ENST00000621359.2:c.2194_2196del	ENSP00000481416.1:p.Thr732del
NM_000251.2:c.2194_2196del , LRG_218t1:c.2194_2196del	NP_000242.1:p.Thr732del
NM_001258281.1:c.1996_1998del	NP_001245210.1:p.Thr666del
XM_005264332.2:c.2194_2196del	XP_005264389.2:p.Thr732del
XM_011532867.1:c.2194_2196del	XP_011531169.1:p.Thr732del
XR_939685.1:n.2266_2268del
XM_005264332.4:c.2194_2196del	XP_005264389.2:p.Thr732del
XM_011532867.2:c.2194_2196del	XP_011531169.1:p.Thr732del
XR_001738747.2:n.2256_2258del
XR_939685.2:n.2256_2258del
NM_000251.3:c.2194_2196del MANE Select	NP_000242.1:p.Thr732del