Canonical Allele Identifier: CA2495865313

Gene: MSH2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47463159_47463161delinsGAA , CM000664.2:g.47463159_47463161delinsGAA	GRCh38
NC_000002.11:g.47690298_47690300delinsGAA , CM000664.1:g.47690298_47690300delinsGAA	GRCh37
NC_000002.10:g.47543802_47543804delinsGAA	NCBI36
NG_007110.2:g.65036_65038delinsGAA , LRG_218:g.65036_65038delinsGAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000644900.2:c.1510+5_1510+7delinsGAA	ENSP00000495641.2:n.1510+5_1510+7delinsGA...
ENST00000233146.7:c.1510+5_1510+7delinsGAA MANE Select	ENSP00000233146.2:n.1510+5_1510+7delinsGA...
ENST00000543555.6:c.1312+5_1312+7delinsGAA	ENSP00000442697.1:n.1312+5_1312+7delinsGA...
ENST00000644092.1:c.1510+5_1510+7delinsGAA	ENSP00000496351.1:n.1510+5_1510+7delinsGA...
ENST00000645339.1:c.1510+5_1510+7delinsGAA	ENSP00000496441.1:n.1510+5_1510+7delinsGA...
ENST00000645506.1:c.1510+5_1510+7delinsGAA	ENSP00000495455.1:n.1510+5_1510+7delinsGA...
ENST00000646415.1:c.1510+5_1510+7delinsGAA	ENSP00000495543.1:n.1510+5_1510+7delinsGA...
ENST00000233146.6:c.1510+5_1510+7delinsGAA	ENSP00000233146.2:n.1510+5_1510+7delinsGA...
ENST00000406134.5:c.1510+5_1510+7delinsGAA	ENSP00000384199.1:n.1510+5_1510+7delinsGA...
ENST00000543555.5:c.1312+5_1312+7delinsGAA	ENSP00000442697.1:n.1312+5_1312+7delinsGA...
ENST00000610696.4:c.1510+5_1510+7delinsGAA	ENSP00000483159.1:n.1510+5_1510+7delinsGA...
ENST00000613514.4:c.*50+5_*50+7delinsGAA	ENSP00000484137.1:n.*50+5_*50+7delinsGAA
ENST00000617333.3:c.*276+5_*276+7delinsGAA	ENSP00000482468.1:n.*276+5_*276+7delinsGA...
ENST00000617938.4:c.*482+5_*482+7delinsGAA	ENSP00000481158.1:n.*482+5_*482+7delinsGA...
ENST00000621359.2:c.1510+5_1510+7delinsGAA	ENSP00000481416.1:n.1510+5_1510+7delinsGA...
NM_000251.2:c.1510+5_1510+7delinsGAA , LRG_218t1:c.1510+5_1510+7delinsGAA	NP_000242.1:n.1510+5_1510+7delinsGAA
NM_001258281.1:c.1312+5_1312+7delinsGAA	NP_001245210.1:n.1312+5_1312+7delinsGAA
XM_005264332.2:c.1510+5_1510+7delinsGAA	XP_005264389.2:n.1510+5_1510+7delinsGAA
XM_011532867.1:c.1510+5_1510+7delinsGAA	XP_011531169.1:n.1510+5_1510+7delinsGAA
XR_939685.1:n.1582+5_1582+7delinsGAA
XM_005264332.4:c.1510+5_1510+7delinsGAA	XP_005264389.2:n.1510+5_1510+7delinsGAA
XM_011532867.2:c.1510+5_1510+7delinsGAA	XP_011531169.1:n.1510+5_1510+7delinsGAA
XR_001738747.2:n.1572+5_1572+7delinsGAA
XR_939685.2:n.1572+5_1572+7delinsGAA
NM_000251.3:c.1510+5_1510+7delinsGAA MANE Select	NP_000242.1:n.1510+5_1510+7delinsGAA