Canonical Allele Identifier: CA2649486192

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.183590492T>A , CM000663.2:g.183590492T>A GRCh38
NC_000001.10:g.183559627T>A , CM000663.1:g.183559627T>A GRCh37
NC_000001.9:g.181826250T>A NCBI36
NG_007267.1:g.5090A>T , LRG_88:g.5090A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000697330.1:c.-30-133A>T (NCF2) ENSP00000513258.1:n.-30-133A>T
ENST00000697351.1:c.-163A>T (NCF2) ENSP00000513276.1:n.-163A>T
ENST00000697352.1:n.70+30A>T (NCF2)
ENST00000697353.1:n.83+131A>T (NCF2)
ENST00000367535.7:c.-163A>T (NCF2) ENSP00000356505.3:n.-163A>T
ENST00000367536.5:c.-30-133A>T (NCF2) ENSP00000356506.1:n.-30-133A>T
ENST00000413720.5:c.-163A>T (NCF2) ENSP00000399294.1:n.-163A>T
ENST00000418089.5:c.-163A>T (NCF2) ENSP00000407217.1:n.-163A>T
ENST00000495321.1:n.234-7277T>A (SMG7)
NM_000433.3:c.-163A>T , LRG_88t1:c.-163A>T (NCF2) NP_000424.2:n.-163A>T
NM_001127651.2:c.-30-133A>T (NCF2) NP_001121123.1:n.-30-133A>T
NM_001190789.1:c.-163A>T (NCF2) NP_001177718.1:n.-163A>T
NM_001190794.1:c.-163A>T (NCF2) NP_001177723.1:n.-163A>T
XM_005245207.1:c.-163A>T (NCF2) XP_005245264.1:n.-163A>T
XM_011509580.1:c.-31+131A>T (NCF2) XP_011507882.1:n.-31+131A>T
XM_011509581.1:c.-31+30A>T (NCF2) XP_011507883.1:n.-31+30A>T
XR_921801.1:n.42A>T (NCF2)
NM_001127651.3:c.-30-133A>T (NCF2) NP_001121123.1:n.-30-133A>T