Canonical Allele Identifier: CA2649483134

Gene: NCF2 SMG7

Linked Data

• gnomAD v4: 1-183560296-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.183560296A>C , CM000663.2:g.183560296A>C	GRCh38
NC_000001.10:g.183529431A>C , CM000663.1:g.183529431A>C	GRCh37
NC_000001.9:g.181796054A>C	NCBI36
NG_007267.1:g.35286T>G , LRG_88:g.35286T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000469280.2:n.731-23T>G (NCF2)
ENST00000697329.1:n.1211-23T>G (NCF2)
ENST00000697330.1:c.1291-23T>G (NCF2)	ENSP00000513258.1:n.1291-23T>G
ENST00000697351.1:c.1183-23T>G (NCF2)	ENSP00000513276.1:n.1183-23T>G
ENST00000367535.8:c.1291-23T>G (NCF2) MANE Select	ENSP00000356505.4:n.1291-23T>G
ENST00000367535.7:c.1291-23T>G (NCF2)	ENSP00000356505.3:n.1291-23T>G
ENST00000367536.5:c.1291-23T>G (NCF2)	ENSP00000356506.1:n.1291-23T>G
ENST00000413720.5:c.1156-23T>G (NCF2)	ENSP00000399294.1:n.1156-23T>G
ENST00000418089.5:c.1048-23T>G (NCF2)	ENSP00000407217.1:n.1048-23T>G
ENST00000469280.1:n.731-23T>G (NCF2)
ENST00000495321.1:n.233+9106A>C (SMG7)
NM_000433.3:c.1291-23T>G , LRG_88t1:c.1291-23T>G (NCF2)	NP_000424.2:n.1291-23T>G
NM_001127651.2:c.1291-23T>G (NCF2)	NP_001121123.1:n.1291-23T>G
NM_001190789.1:c.1048-23T>G (NCF2)	NP_001177718.1:n.1048-23T>G
NM_001190794.1:c.1156-23T>G (NCF2)	NP_001177723.1:n.1156-23T>G
XM_005245207.1:c.1183-23T>G (NCF2)	XP_005245264.1:n.1183-23T>G
XM_011509580.1:c.1291-23T>G (NCF2)	XP_011507882.1:n.1291-23T>G
XM_011509581.1:c.1291-23T>G (NCF2)	XP_011507883.1:n.1291-23T>G
NM_000433.4:c.1291-23T>G (NCF2) MANE Select	NP_000424.2:n.1291-23T>G
NM_001127651.3:c.1291-23T>G (NCF2)	NP_001121123.1:n.1291-23T>G
NM_001190789.2:c.1048-23T>G (NCF2)	NP_001177718.1:n.1048-23T>G
NM_001190794.2:c.1156-23T>G (NCF2)	NP_001177723.1:n.1156-23T>G