Canonical Allele Identifier: CA1139655591

Gene: MSH2

Linked Data

• ClinVar Variation Id: 973424
• ClinVar RCV Id: RCV001250023 ; RCV002418858 ; RCV003449808
• dbSNP Id: rs1667386244

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478283_47478284del , CM000664.2:g.47478283_47478284del	GRCh38
NC_000002.11:g.47705422_47705423del , CM000664.1:g.47705422_47705423del	GRCh37
NC_000002.10:g.47558926_47558927del	NCBI36
NG_007110.2:g.80160_80161del , LRG_218:g.80160_80161del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2222_2223del	ENSP00000495641.2:p.Lys741ArgfsTer8
ENST00000233146.7:c.2222_2223del MANE Select	ENSP00000233146.2:p.Lys741ArgfsTer8
ENST00000543555.6:c.2024_2025del	ENSP00000442697.1:p.Lys675ArgfsTer8
ENST00000644092.1:c.*522_*523del	ENSP00000496351.1:n.*522_*523del
ENST00000644900.1:c.75_76del
ENST00000645339.1:c.2222_2223del	ENSP00000496441.1:p.Lys741ArgfsTer8
ENST00000645506.1:c.2222_2223del	ENSP00000495455.1:p.Lys741ArgfsTer8
ENST00000646415.1:c.2222_2223del	ENSP00000495543.1:p.Lys741ArgfsTer8
ENST00000233146.6:c.2222_2223del	ENSP00000233146.2:p.Lys741ArgfsTer8
ENST00000406134.5:c.2222_2223del	ENSP00000384199.1:p.Lys741ArgfsTer8
ENST00000543555.5:c.2024_2025del	ENSP00000442697.1:p.Lys675ArgfsTer8
ENST00000610696.4:c.*618_*619del	ENSP00000483159.1:n.*618_*619del
ENST00000613514.4:c.*762_*763del	ENSP00000484137.1:n.*762_*763del
ENST00000617333.3:c.*988_*989del	ENSP00000482468.1:n.*988_*989del
ENST00000617938.4:c.*1194_*1195del	ENSP00000481158.1:n.*1194_*1195del
ENST00000621359.2:c.2222_2223del	ENSP00000481416.1:p.Lys741ArgfsTer8
NM_000251.2:c.2222_2223del , LRG_218t1:c.2222_2223del	NP_000242.1:p.Lys741ArgfsTer8
NM_001258281.1:c.2024_2025del	NP_001245210.1:p.Lys675ArgfsTer8
XM_005264332.2:c.2222_2223del	XP_005264389.2:p.Lys741ArgfsTer8
XM_011532867.1:c.2222_2223del	XP_011531169.1:p.Lys741ArgfsTer8
XR_939685.1:n.2294_2295del
XM_005264332.4:c.2222_2223del	XP_005264389.2:p.Lys741ArgfsTer8
XM_011532867.2:c.2222_2223del	XP_011531169.1:p.Lys741ArgfsTer8
XR_001738747.2:n.2284_2285del
XR_939685.2:n.2284_2285del
NM_000251.3:c.2222_2223del MANE Select	NP_000242.1:p.Lys741ArgfsTer8