Canonical Allele Identifier: CA2649483037

Gene: NCF2 SMG7

Linked Data

• gnomAD v4: 1-183560091-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.183560091C>T , CM000663.2:g.183560091C>T	GRCh38
NC_000001.10:g.183529226C>T , CM000663.1:g.183529226C>T	GRCh37
NC_000001.9:g.181795849C>T	NCBI36
NG_007267.1:g.35491G>A , LRG_88:g.35491G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000469280.2:n.908+5G>A (NCF2)
ENST00000697329.1:n.1388+5G>A (NCF2)
ENST00000697330.1:c.1468+5G>A (NCF2)	ENSP00000513258.1:n.1468+5G>A
ENST00000697351.1:c.1360+5G>A (NCF2)	ENSP00000513276.1:n.1360+5G>A
ENST00000367535.8:c.1468+5G>A (NCF2) MANE Select	ENSP00000356505.4:n.1468+5G>A
ENST00000367535.7:c.1468+5G>A (NCF2)	ENSP00000356505.3:n.1468+5G>A
ENST00000367536.5:c.1468+5G>A (NCF2)	ENSP00000356506.1:n.1468+5G>A
ENST00000413720.5:c.1333+5G>A (NCF2)	ENSP00000399294.1:n.1333+5G>A
ENST00000418089.5:c.1225+5G>A (NCF2)	ENSP00000407217.1:n.1225+5G>A
ENST00000495321.1:n.233+8901C>T (SMG7)
NM_000433.3:c.1468+5G>A , LRG_88t1:c.1468+5G>A (NCF2)	NP_000424.2:n.1468+5G>A
NM_001127651.2:c.1468+5G>A (NCF2)	NP_001121123.1:n.1468+5G>A
NM_001190789.1:c.1225+5G>A (NCF2)	NP_001177718.1:n.1225+5G>A
NM_001190794.1:c.1333+5G>A (NCF2)	NP_001177723.1:n.1333+5G>A
XM_005245207.1:c.1360+5G>A (NCF2)	XP_005245264.1:n.1360+5G>A
XM_011509580.1:c.1468+5G>A (NCF2)	XP_011507882.1:n.1468+5G>A
XM_011509581.1:c.1468+5G>A (NCF2)	XP_011507883.1:n.1468+5G>A
NM_000433.4:c.1468+5G>A (NCF2) MANE Select	NP_000424.2:n.1468+5G>A
NM_001127651.3:c.1468+5G>A (NCF2)	NP_001121123.1:n.1468+5G>A
NM_001190789.2:c.1225+5G>A (NCF2)	NP_001177718.1:n.1225+5G>A
NM_001190794.2:c.1333+5G>A (NCF2)	NP_001177723.1:n.1333+5G>A