Canonical Allele Identifier: CA658655776

Gene: MSH2

Linked Data

• ClinVar Variation Id: 486872
• ClinVar RCV Id: RCV003451280 ; RCV000573214
• dbSNP Id: rs1553370381
• MyVariant Identifiers: chr2:g.47707927_47707928insCA (hg19) ; chr2:g.47480788_47480789insCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47480788_47480789insCA , CM000664.2:g.47480788_47480789insCA	GRCh38
NC_000002.11:g.47707927_47707928insCA , CM000664.1:g.47707927_47707928insCA	GRCh37
NC_000002.10:g.47561431_47561432insCA	NCBI36
NG_007110.2:g.82665_82666insCA , LRG_218:g.82665_82666insCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2551_2552insCA	ENSP00000495641.2:p.Leu851ProfsTer31
ENST00000233146.7:c.2551_2552insCA MANE Select	ENSP00000233146.2:p.Leu851ProfsTer?
ENST00000543555.6:c.2353_2354insCA	ENSP00000442697.1:p.Leu785ProfsTer?
ENST00000644092.1:c.*851_*852insCA	ENSP00000496351.1:n.*851_*852insCA
ENST00000644900.1:c.404_405insCA
ENST00000645339.1:c.2551_2552insCA	ENSP00000496441.1:p.Leu851ProfsTer?
ENST00000645506.1:c.2551_2552insCA	ENSP00000495455.1:p.Leu851ProfsTer?
ENST00000646415.1:c.2551_2552insCA	ENSP00000495543.1:p.Leu851ProfsTer?
ENST00000233146.6:c.2551_2552insCA	ENSP00000233146.2:p.Leu851ProfsTer?
ENST00000406134.5:c.2551_2552insCA	ENSP00000384199.1:p.Leu851ProfsTer?
ENST00000543555.5:c.2353_2354insCA	ENSP00000442697.1:p.Leu785ProfsTer?
ENST00000610696.4:c.*947_*948insCA	ENSP00000483159.1:n.*947_*948insCA
ENST00000613514.4:c.*1091_*1092insCA	ENSP00000484137.1:n.*1091_*1092insCA
ENST00000617333.3:c.*1317_*1318insCA	ENSP00000482468.1:n.*1317_*1318insCA
ENST00000617938.4:c.*1523_*1524insCA	ENSP00000481158.1:n.*1523_*1524insCA
ENST00000621359.2:c.*117_*118insCA	ENSP00000481416.1:n.*117_*118insCA
NM_000251.2:c.2551_2552insCA , LRG_218t1:c.2551_2552insCA	NP_000242.1:p.Leu851ProfsTer?
NM_001258281.1:c.2353_2354insCA	NP_001245210.1:p.Leu785ProfsTer?
XM_005264332.2:c.2551_2552insCA	XP_005264389.2:p.Leu851ProfsTer?
XM_011532867.1:c.2551_2552insCA	XP_011531169.1:p.Leu851ProfsTer?
XR_939685.1:n.2623_2624insCA
XM_005264332.4:c.2551_2552insCA	XP_005264389.2:p.Leu851ProfsTer?
XM_011532867.2:c.2551_2552insCA	XP_011531169.1:p.Leu851ProfsTer?
XR_001738747.2:n.2613_2614insCA
XR_939685.2:n.2613_2614insCA
NM_000251.3:c.2551_2552insCA MANE Select	NP_000242.1:p.Leu851ProfsTer?