Canonical Allele Identifier: CA2586964903

Gene: MSH2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478361_47478364delinsATATATAT , CM000664.2:g.47478361_47478364delinsATATATAT	GRCh38
NC_000002.11:g.47705500_47705503delinsATATATAT , CM000664.1:g.47705500_47705503delinsATATATAT	GRCh37
NC_000002.10:g.47559004_47559007delinsATATATAT	NCBI36
NG_007110.2:g.80238_80241delinsATATATAT , LRG_218:g.80238_80241delinsATATATAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2300_2303delinsATATATAT	ENSP00000495641.2:p.Ser767TyrfsTer21
ENST00000233146.7:c.2300_2303delinsATATATAT MANE Select	ENSP00000233146.2:p.Ser767TyrfsTer21
ENST00000543555.6:c.2102_2105delinsATATATAT	ENSP00000442697.1:p.Ser701TyrfsTer21
ENST00000644092.1:c.*600_*603delinsATATATAT	ENSP00000496351.1:n.*600_*603delinsATATATAT
ENST00000644900.1:c.153_156delinsATATATAT
ENST00000645339.1:c.2300_2303delinsATATATAT	ENSP00000496441.1:p.Ser767TyrfsTer21
ENST00000645506.1:c.2300_2303delinsATATATAT	ENSP00000495455.1:p.Ser767TyrfsTer21
ENST00000646415.1:c.2300_2303delinsATATATAT	ENSP00000495543.1:p.Ser767TyrfsTer21
ENST00000233146.6:c.2300_2303delinsATATATAT	ENSP00000233146.2:p.Ser767TyrfsTer21
ENST00000406134.5:c.2300_2303delinsATATATAT	ENSP00000384199.1:p.Ser767TyrfsTer21
ENST00000543555.5:c.2102_2105delinsATATATAT	ENSP00000442697.1:p.Ser701TyrfsTer21
ENST00000610696.4:c.*696_*699delinsATATATAT	ENSP00000483159.1:n.*696_*699delinsATATATAT
ENST00000613514.4:c.*840_*843delinsATATATAT	ENSP00000484137.1:n.*840_*843delinsATATATAT
ENST00000617333.3:c.*1066_*1069delinsATATATAT	ENSP00000482468.1:n.*1066_*1069delinsATATATAT
ENST00000617938.4:c.*1272_*1275delinsATATATAT	ENSP00000481158.1:n.*1272_*1275delinsATATATAT
ENST00000621359.2:c.2300_2303delinsATATATAT	ENSP00000481416.1:p.Ser767TyrfsTer?
NM_000251.2:c.2300_2303delinsATATATAT , LRG_218t1:c.2300_2303delinsATATATAT	NP_000242.1:p.Ser767TyrfsTer21
NM_001258281.1:c.2102_2105delinsATATATAT	NP_001245210.1:p.Ser701TyrfsTer21
XM_005264332.2:c.2300_2303delinsATATATAT	XP_005264389.2:p.Ser767TyrfsTer21
XM_011532867.1:c.2300_2303delinsATATATAT	XP_011531169.1:p.Ser767TyrfsTer21
XR_939685.1:n.2372_2375delinsATATATAT
XM_005264332.4:c.2300_2303delinsATATATAT	XP_005264389.2:p.Ser767TyrfsTer21
XM_011532867.2:c.2300_2303delinsATATATAT	XP_011531169.1:p.Ser767TyrfsTer21
XR_001738747.2:n.2362_2365delinsATATATAT
XR_939685.2:n.2362_2365delinsATATATAT
NM_000251.3:c.2300_2303delinsATATATAT MANE Select	NP_000242.1:p.Ser767TyrfsTer21