Canonical Allele Identifier: CA2649486220

Gene: NCF2 SMG7

Linked Data

• gnomAD v4: 1-183590538-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.183590538C>A , CM000663.2:g.183590538C>A	GRCh38
NC_000001.10:g.183559673C>A , CM000663.1:g.183559673C>A	GRCh37
NC_000001.9:g.181826296C>A	NCBI36
NG_007267.1:g.5044G>T , LRG_88:g.5044G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697330.1:c.-30-179G>T (NCF2)	ENSP00000513258.1:n.-30-179G>T
ENST00000697351.1:c.-209G>T (NCF2)	ENSP00000513276.1:n.-209G>T
ENST00000697352.1:n.54G>T (NCF2)
ENST00000697353.1:n.83+85G>T (NCF2)
ENST00000367535.7:c.-209G>T (NCF2)	ENSP00000356505.3:n.-209G>T
ENST00000367536.5:c.-30-179G>T (NCF2)	ENSP00000356506.1:n.-30-179G>T
ENST00000413720.5:c.-209G>T (NCF2)	ENSP00000399294.1:n.-209G>T
ENST00000418089.5:c.-209G>T (NCF2)	ENSP00000407217.1:n.-209G>T
ENST00000495321.1:n.234-7231C>A (SMG7)
NM_000433.3:c.-209G>T , LRG_88t1:c.-209G>T (NCF2)	NP_000424.2:n.-209G>T
NM_001127651.2:c.-30-179G>T (NCF2)	NP_001121123.1:n.-30-179G>T
NM_001190789.1:c.-209G>T (NCF2)	NP_001177718.1:n.-209G>T
NM_001190794.1:c.-209G>T (NCF2)	NP_001177723.1:n.-209G>T
XM_011509580.1:c.-31+85G>T (NCF2)	XP_011507882.1:n.-31+85G>T
XM_011509581.1:c.-47G>T (NCF2)	XP_011507883.1:n.-47G>T
NM_001127651.3:c.-30-179G>T (NCF2)	NP_001121123.1:n.-30-179G>T