Canonical Allele Identifier: CA2495843711

Gene: MSH2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47429904_47429908delinsACTAC , CM000664.2:g.47429904_47429908delinsACTAC	GRCh38
NC_000002.11:g.47657043_47657047delinsACTAC , CM000664.1:g.47657043_47657047delinsACTAC	GRCh37
NC_000002.10:g.47510547_47510551delinsACTAC	NCBI36
NG_007110.2:g.31781_31785delinsACTAC , LRG_218:g.31781_31785delinsACTAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1239_1243delinsACTAC	ENSP00000495641.2:p.Gln413=
ENST00000233146.7:c.1239_1243delinsACTAC MANE Select	ENSP00000233146.2:p.Gln413=
ENST00000543555.6:c.1041_1045delinsACTAC	ENSP00000442697.1:p.Gln347=
ENST00000644092.1:c.1239_1243delinsACTAC	ENSP00000496351.1:p.Gln413=
ENST00000645339.1:c.1239_1243delinsACTAC	ENSP00000496441.1:p.Gln413=
ENST00000645506.1:c.1239_1243delinsACTAC	ENSP00000495455.1:p.Gln413=
ENST00000646415.1:c.1239_1243delinsACTAC	ENSP00000495543.1:p.Gln413=
ENST00000233146.6:c.1239_1243delinsACTAC	ENSP00000233146.2:p.Gln413=
ENST00000406134.5:c.1239_1243delinsACTAC	ENSP00000384199.1:p.Gln413=
ENST00000543555.5:c.1041_1045delinsACTAC	ENSP00000442697.1:p.Gln347=
ENST00000610696.4:c.1239_1243delinsACTAC	ENSP00000483159.1:p.Gln413=
ENST00000613514.4:c.1239_1243delinsACTAC	ENSP00000484137.1:p.Gln413=
ENST00000617333.3:c.*5_*9delinsACTAC	ENSP00000482468.1:n.*5_*9delinsACTAC
ENST00000617938.4:c.*211_*215delinsACTAC	ENSP00000481158.1:n.*211_*215delinsACTAC
ENST00000621359.2:c.1239_1243delinsACTAC	ENSP00000481416.1:p.Gln413=
NM_000251.2:c.1239_1243delinsACTAC , LRG_218t1:c.1239_1243delinsACTAC	NP_000242.1:p.Gln413=
NM_001258281.1:c.1041_1045delinsACTAC	NP_001245210.1:p.Gln347=
XM_005264332.2:c.1239_1243delinsACTAC	XP_005264389.2:p.Gln413=
XM_011532867.1:c.1239_1243delinsACTAC	XP_011531169.1:p.Gln413=
XR_939685.1:n.1311_1315delinsACTAC
XM_005264332.4:c.1239_1243delinsACTAC	XP_005264389.2:p.Gln413=
XM_011532867.2:c.1239_1243delinsACTAC	XP_011531169.1:p.Gln413=
XR_001738747.2:n.1301_1305delinsACTAC
XR_939685.2:n.1301_1305delinsACTAC
NM_000251.3:c.1239_1243delinsACTAC MANE Select	NP_000242.1:p.Gln413=