Canonical Allele Identifier: CA2649486197

Gene: NCF2 SMG7

Linked Data

• gnomAD v4: 1-183590496-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.183590496G>T , CM000663.2:g.183590496G>T	GRCh38
NC_000001.10:g.183559631G>T , CM000663.1:g.183559631G>T	GRCh37
NC_000001.9:g.181826254G>T	NCBI36
NG_007267.1:g.5086C>A , LRG_88:g.5086C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697330.1:c.-30-137C>A (NCF2)	ENSP00000513258.1:n.-30-137C>A
ENST00000697351.1:c.-167C>A (NCF2)	ENSP00000513276.1:n.-167C>A
ENST00000697352.1:n.70+26C>A (NCF2)
ENST00000697353.1:n.83+127C>A (NCF2)
ENST00000367535.7:c.-167C>A (NCF2)	ENSP00000356505.3:n.-167C>A
ENST00000367536.5:c.-30-137C>A (NCF2)	ENSP00000356506.1:n.-30-137C>A
ENST00000413720.5:c.-167C>A (NCF2)	ENSP00000399294.1:n.-167C>A
ENST00000418089.5:c.-167C>A (NCF2)	ENSP00000407217.1:n.-167C>A
ENST00000495321.1:n.234-7273G>T (SMG7)
NM_000433.3:c.-167C>A , LRG_88t1:c.-167C>A (NCF2)	NP_000424.2:n.-167C>A
NM_001127651.2:c.-30-137C>A (NCF2)	NP_001121123.1:n.-30-137C>A
NM_001190789.1:c.-167C>A (NCF2)	NP_001177718.1:n.-167C>A
NM_001190794.1:c.-167C>A (NCF2)	NP_001177723.1:n.-167C>A
XM_005245207.1:c.-167C>A (NCF2)	XP_005245264.1:n.-167C>A
XM_011509580.1:c.-31+127C>A (NCF2)	XP_011507882.1:n.-31+127C>A
XM_011509581.1:c.-31+26C>A (NCF2)	XP_011507883.1:n.-31+26C>A
XR_921801.1:n.38C>A (NCF2)
NM_001127651.3:c.-30-137C>A (NCF2)	NP_001121123.1:n.-30-137C>A