Canonical Allele Identifier: CA2586964844

Gene: MSH2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47480709_47480710delinsGAT , CM000664.2:g.47480709_47480710delinsGAT	GRCh38
NC_000002.11:g.47707848_47707849delinsGAT , CM000664.1:g.47707848_47707849delinsGAT	GRCh37
NC_000002.10:g.47561352_47561353delinsGAT	NCBI36
NG_007110.2:g.82586_82587delinsGAT , LRG_218:g.82586_82587delinsGAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2472_2473delinsGAT	ENSP00000495641.2:p.Ser825MetfsTer11
ENST00000233146.7:c.2472_2473delinsGAT MANE Select	ENSP00000233146.2:p.Ser825MetfsTer11
ENST00000543555.6:c.2274_2275delinsGAT	ENSP00000442697.1:p.Ser759MetfsTer11
ENST00000644092.1:c.*772_*773delinsGAT	ENSP00000496351.1:n.*772_*773delinsGAT
ENST00000644900.1:c.325_326delinsGAT
ENST00000645339.1:c.2472_2473delinsGAT	ENSP00000496441.1:p.Ser825MetfsTer11
ENST00000645506.1:c.2472_2473delinsGAT	ENSP00000495455.1:p.Ser825MetfsTer11
ENST00000646415.1:c.2472_2473delinsGAT	ENSP00000495543.1:p.Ser825MetfsTer11
ENST00000233146.6:c.2472_2473delinsGAT	ENSP00000233146.2:p.Ser825MetfsTer11
ENST00000406134.5:c.2472_2473delinsGAT	ENSP00000384199.1:p.Ser825MetfsTer11
ENST00000543555.5:c.2274_2275delinsGAT	ENSP00000442697.1:p.Ser759MetfsTer11
ENST00000610696.4:c.*868_*869delinsGAT	ENSP00000483159.1:n.*868_*869delinsGAT
ENST00000613514.4:c.*1012_*1013delinsGAT	ENSP00000484137.1:n.*1012_*1013delinsGAT
ENST00000617333.3:c.*1238_*1239delinsGAT	ENSP00000482468.1:n.*1238_*1239delinsGAT
ENST00000617938.4:c.*1444_*1445delinsGAT	ENSP00000481158.1:n.*1444_*1445delinsGAT
ENST00000621359.2:c.*38_*39delinsGAT	ENSP00000481416.1:n.*38_*39delinsGAT
NM_000251.2:c.2472_2473delinsGAT , LRG_218t1:c.2472_2473delinsGAT	NP_000242.1:p.Ser825MetfsTer11
NM_001258281.1:c.2274_2275delinsGAT	NP_001245210.1:p.Ser759MetfsTer11
XM_005264332.2:c.2472_2473delinsGAT	XP_005264389.2:p.Ser825MetfsTer11
XM_011532867.1:c.2472_2473delinsGAT	XP_011531169.1:p.Ser825MetfsTer11
XR_939685.1:n.2544_2545delinsGAT
XM_005264332.4:c.2472_2473delinsGAT	XP_005264389.2:p.Ser825MetfsTer11
XM_011532867.2:c.2472_2473delinsGAT	XP_011531169.1:p.Ser825MetfsTer11
XR_001738747.2:n.2534_2535delinsGAT
XR_939685.2:n.2534_2535delinsGAT
NM_000251.3:c.2472_2473delinsGAT MANE Select	NP_000242.1:p.Ser825MetfsTer11