Canonical Allele Identifier: CA026909

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.[183574507T>C;183574509T>A] , CM000663.2:g.[183574507T>C;183574509T>A] GRCh38
NC_000001.10:g.[183543642T>C;183543644T>A] , CM000663.1:g.[183543642T>C;183543644T>A] GRCh37
NC_000001.9:g.[181810265T>C;181810267T>A] NCBI36
NG_007267.1:g.[21073A>T;21075A>G] , LRG_88:g.[21073A>T;21075A>G]

Transcript Alleles

HGVS Amino-acid Change
ENST00000697329.1:n.[399A>T;401A>G] (NCF2)
ENST00000697330.1:c.[479A>T;481A>G] (NCF2) ENSP00000513258.1:p.Asp160_Lys161delinsValGlu
ENST00000697351.1:c.[479A>T;481A>G] (NCF2) ENSP00000513276.1:p.[Asp160Val;Lys161Glu]
ENST00000697352.1:n.[579A>T;581A>G] (NCF2)
ENST00000367535.8:c.[479A>T;481A>G] (NCF2) MANE Select ENSP00000356505.4:p.[Asp160Val;Lys161Glu]
ENST00000367535.7:c.[479A>T;481A>G] (NCF2) ENSP00000356505.3:p.Asp160_Lys161delinsValGlu
ENST00000367536.5:c.[479A>T;481A>G] (NCF2) ENSP00000356506.1:p.[Asp160Val;Lys161Glu]
ENST00000413720.5:c.[367-1217A>T;367-1215A>G] (NCF2) ENSP00000399294.1:n.[367-1217A>T;367-1215A>G]
ENST00000418089.5:c.[366+3090A>T;366+3092A>G] (NCF2) ENSP00000407217.1:n.[366+3090A>T;366+3092A>G]
ENST00000495321.1:n.[234-23262T>C;234-23260T>A] (SMG7)
NM_000433.3:c.[479A>T;481A>G] , LRG_88t1:c.[479A>T;481A>G] (NCF2) NP_000424.2:p.[Asp160Val;Lys161Glu]
NM_001127651.2:c.[479A>T;481A>G] (NCF2) NP_001121123.1:p.[Asp160Val;Lys161Glu]
NM_001190789.1:c.[366+3090A>T;366+3092A>G] (NCF2) NP_001177718.1:n.[366+3090A>T;366+3092A>G]
NM_001190794.1:c.[367-1217A>T;367-1215A>G] (NCF2) NP_001177723.1:n.[367-1217A>T;367-1215A>G]
XM_005245207.1:c.[479A>T;481A>G] (NCF2) XP_005245264.1:p.Asp160_Lys161delinsValGlu
XM_011509580.1:c.[479A>T;481A>G] (NCF2) XP_011507882.1:p.[Asp160Val;Lys161Glu]
XM_011509581.1:c.[479A>T;481A>G] (NCF2) XP_011507883.1:p.[Asp160Val;Lys161Glu]
XR_921801.1:n.[683A>T;685A>G] (NCF2)
NM_000433.4:c.[479A>T;481A>G] (NCF2) MANE Select NP_000424.2:p.[Asp160Val;Lys161Glu]
NM_001127651.3:c.[479A>T;481A>G] (NCF2) NP_001121123.1:p.Asp160_Lys161delinsValGlu
NM_001190789.2:c.[366+3090A>T;366+3092A>G] (NCF2) NP_001177718.1:n.[366+3090A>T;366+3092A>G]
NM_001190794.2:c.[367-1217A>T;367-1215A>G] (NCF2) NP_001177723.1:n.[367-1217A>T;367-1215A>G]