Canonical Allele Identifier: CA2581463444
Gene: MSH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47403387del , CM000664.2:g.47403387del GRCh38
NC_000002.11:g.47630526del , CM000664.1:g.47630526del GRCh37
NC_000002.10:g.47484030del NCBI36
NG_007110.2:g.5264del , LRG_218:g.5264del

Transcript Alleles

HGVS Amino-acid Change
ENST00000644900.2:c.196del ENSP00000495641.2:p.Tyr66ThrfsTer18
ENST00000233146.7:c.196del MANE Select ENSP00000233146.2:p.Tyr66ThrfsTer18
ENST00000543555.6:c.-3del ENSP00000442697.1:n.-3del
ENST00000644092.1:c.196del ENSP00000496351.1:p.Tyr66ThrfsTer18
ENST00000645339.1:c.196del ENSP00000496441.1:p.Tyr66ThrfsTer18
ENST00000645506.1:c.196del ENSP00000495455.1:p.Tyr66ThrfsTer18
ENST00000646415.1:c.196del ENSP00000495543.1:p.Tyr66ThrfsTer18
ENST00000233146.6:c.196del ENSP00000233146.2:p.Tyr66ThrfsTer18
ENST00000406134.5:c.196del ENSP00000384199.1:p.Tyr66ThrfsTer18
ENST00000454849.5:c.-3del ENSP00000411482.1:n.-3del
ENST00000543555.5:c.-3del ENSP00000442697.1:n.-3del
ENST00000610696.4:c.196del ENSP00000483159.1:p.Tyr66ThrfsTer18
ENST00000613514.4:c.196del ENSP00000484137.1:p.Tyr66ThrfsTer18
ENST00000617333.3:c.196del ENSP00000482468.1:p.Tyr66ThrfsTer18
ENST00000617938.4:c.196del ENSP00000481158.1:p.Tyr66ThrfsTer18
ENST00000621359.2:c.196del ENSP00000481416.1:p.Tyr66ThrfsTer18
NM_000251.2:c.196del , LRG_218t1:c.196del NP_000242.1:p.Tyr66ThrfsTer18
NM_001258281.1:c.-3del NP_001245210.1:n.-3del
XM_005264332.2:c.196del XP_005264389.2:p.Tyr66ThrfsTer18
XM_011532867.1:c.196del XP_011531169.1:p.Tyr66ThrfsTer18
XR_939685.1:n.268del
XM_005264332.4:c.196del XP_005264389.2:p.Tyr66ThrfsTer18
XM_011532867.2:c.196del XP_011531169.1:p.Tyr66ThrfsTer18
XR_001738747.2:n.258del
XR_939685.2:n.258del
NM_000251.3:c.196del MANE Select NP_000242.1:p.Tyr66ThrfsTer18