Canonical Allele Identifier: CA018769
Gene: MSH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47466785_47466786dup , CM000664.2:g.47466785_47466786dup GRCh38
NC_000002.11:g.47693924_47693925dup , CM000664.1:g.47693924_47693925dup GRCh37
NC_000002.10:g.47547428_47547429dup NCBI36
NG_007110.2:g.68662_68663dup , LRG_218:g.68662_68663dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000644900.2:c.1638_1639dup ENSP00000495641.2:p.Asn547ArgfsTer11
ENST00000233146.7:c.1638_1639dup MANE Select ENSP00000233146.2:p.Asn547ArgfsTer11
ENST00000543555.6:c.1440_1441dup ENSP00000442697.1:p.Asn481ArgfsTer11
ENST00000644092.1:c.1638_1639dup ENSP00000496351.1:p.Asn547ArgfsTer?
ENST00000645339.1:c.1638_1639dup ENSP00000496441.1:p.Asn547ArgfsTer11
ENST00000645506.1:c.1638_1639dup ENSP00000495455.1:p.Asn547ArgfsTer11
ENST00000646415.1:c.1638_1639dup ENSP00000495543.1:p.Asn547ArgfsTer11
ENST00000233146.6:c.1638_1639dup ENSP00000233146.2:p.Asn547ArgfsTer11
ENST00000406134.5:c.1638_1639dup ENSP00000384199.1:p.Asn547ArgfsTer11
ENST00000543555.5:c.1440_1441dup ENSP00000442697.1:p.Asn481ArgfsTer11
ENST00000610696.4:c.*34_*35dup ENSP00000483159.1:n.*34_*35dup
ENST00000613514.4:c.*178_*179dup ENSP00000484137.1:n.*178_*179dup
ENST00000617333.3:c.*404_*405dup ENSP00000482468.1:n.*404_*405dup
ENST00000617938.4:c.*610_*611dup ENSP00000481158.1:n.*610_*611dup
ENST00000621359.2:c.1638_1639dup ENSP00000481416.1:p.Asn547ArgfsTer11
NM_000251.2:c.1638_1639dup , LRG_218t1:c.1638_1639dup NP_000242.1:p.Asn547ArgfsTer11
NM_001258281.1:c.1440_1441dup NP_001245210.1:p.Asn481ArgfsTer11
XM_005264332.2:c.1638_1639dup XP_005264389.2:p.Asn547ArgfsTer11
XM_011532867.1:c.1638_1639dup XP_011531169.1:p.Asn547ArgfsTer11
XR_939685.1:n.1710_1711dup
XM_005264332.4:c.1638_1639dup XP_005264389.2:p.Asn547ArgfsTer11
XM_011532867.2:c.1638_1639dup XP_011531169.1:p.Asn547ArgfsTer11
XR_001738747.2:n.1700_1701dup
XR_939685.2:n.1700_1701dup
NM_000251.3:c.1638_1639dup MANE Select NP_000242.1:p.Asn547ArgfsTer11