Canonical Allele Identifier: CA2495872543
Gene: MSH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47475206_47475210delinsAATTG , CM000664.2:g.47475206_47475210delinsAATTG GRCh38
NC_000002.11:g.47702345_47702349delinsAATTG , CM000664.1:g.47702345_47702349delinsAATTG GRCh37
NC_000002.10:g.47555849_47555853delinsAATTG NCBI36
NG_007110.2:g.77083_77087delinsAATTG , LRG_218:g.77083_77087delinsAATTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000644900.2:c.1941_1945delinsAATTG ENSP00000495641.2:p.Glu647=
ENST00000233146.7:c.1941_1945delinsAATTG MANE Select ENSP00000233146.2:p.Glu647=
ENST00000543555.6:c.1743_1747delinsAATTG ENSP00000442697.1:p.Glu581=
ENST00000644092.1:c.*241_*245delinsAATTG ENSP00000496351.1:n.*241_*245delinsAATTG
ENST00000645339.1:c.1941_1945delinsAATTG ENSP00000496441.1:p.Glu647=
ENST00000645506.1:c.1941_1945delinsAATTG ENSP00000495455.1:p.Glu647=
ENST00000646415.1:c.1941_1945delinsAATTG ENSP00000495543.1:p.Glu647=
ENST00000233146.6:c.1941_1945delinsAATTG ENSP00000233146.2:p.Glu647=
ENST00000406134.5:c.1941_1945delinsAATTG ENSP00000384199.1:p.Glu647=
ENST00000543555.5:c.1743_1747delinsAATTG ENSP00000442697.1:p.Glu581=
ENST00000610696.4:c.*337_*341delinsAATTG ENSP00000483159.1:n.*337_*341delinsAATTG
ENST00000613514.4:c.*481_*485delinsAATTG ENSP00000484137.1:n.*481_*485delinsAATTG
ENST00000617333.3:c.*707_*711delinsAATTG ENSP00000482468.1:n.*707_*711delinsAATTG
ENST00000617938.4:c.*913_*917delinsAATTG ENSP00000481158.1:n.*913_*917delinsAATTG
ENST00000621359.2:c.1941_1945delinsAATTG ENSP00000481416.1:p.Glu647=
NM_000251.2:c.1941_1945delinsAATTG , LRG_218t1:c.1941_1945delinsAATTG NP_000242.1:p.Glu647=
NM_001258281.1:c.1743_1747delinsAATTG NP_001245210.1:p.Glu581=
XM_005264332.2:c.1941_1945delinsAATTG XP_005264389.2:p.Glu647=
XM_011532867.1:c.1941_1945delinsAATTG XP_011531169.1:p.Glu647=
XR_939685.1:n.2013_2017delinsAATTG
XM_005264332.4:c.1941_1945delinsAATTG XP_005264389.2:p.Glu647=
XM_011532867.2:c.1941_1945delinsAATTG XP_011531169.1:p.Glu647=
XR_001738747.2:n.2003_2007delinsAATTG
XR_939685.2:n.2003_2007delinsAATTG
NM_000251.3:c.1941_1945delinsAATTG MANE Select NP_000242.1:p.Glu647=