Canonical Allele Identifier: CA34019796

Gene: NCF2 SMG7

Linked Data

• ClinVar Variation Id: 1002034
• ClinVar RCV Id: RCV001298404
• dbSNP Id: rs142633260
• gnomAD v2: 1-183529335-T-C
• gnomAD v3: 1-183560200-T-C
• gnomAD v4: 1-183560200-T-C
• MyVariant Identifiers: chr1:g.183529335T>C (hg19) ; chr1:g.183560200T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.183560200T>C , CM000663.2:g.183560200T>C	GRCh38
NC_000001.10:g.183529335T>C , CM000663.1:g.183529335T>C	GRCh37
NC_000001.9:g.181795958T>C	NCBI36
NG_007267.1:g.35382A>G , LRG_88:g.35382A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000469280.2:n.804A>G (NCF2)
ENST00000697329.1:n.1284A>G (NCF2)
ENST00000697330.1:c.1364A>G (NCF2)	ENSP00000513258.1:p.Gln455Arg
ENST00000697351.1:c.1256A>G (NCF2)	ENSP00000513276.1:p.Gln419Arg
ENST00000367535.8:c.1364A>G (NCF2) MANE Select	ENSP00000356505.4:p.Gln455Arg
ENST00000367535.7:c.1364A>G (NCF2)	ENSP00000356505.3:p.Gln455Arg
ENST00000367536.5:c.1364A>G (NCF2)	ENSP00000356506.1:p.Gln455Arg
ENST00000413720.5:c.1229A>G (NCF2)	ENSP00000399294.1:p.Gln410Arg
ENST00000418089.5:c.1121A>G (NCF2)	ENSP00000407217.1:p.Gln374Arg
ENST00000495321.1:n.233+9010T>C (SMG7)
NM_000433.3:c.1364A>G , LRG_88t1:c.1364A>G (NCF2)	NP_000424.2:p.Gln455Arg
NM_001127651.2:c.1364A>G (NCF2)	NP_001121123.1:p.Gln455Arg
NM_001190789.1:c.1121A>G (NCF2)	NP_001177718.1:p.Gln374Arg
NM_001190794.1:c.1229A>G (NCF2)	NP_001177723.1:p.Gln410Arg
XM_005245207.1:c.1256A>G (NCF2)	XP_005245264.1:p.Gln419Arg
XM_011509580.1:c.1364A>G (NCF2)	XP_011507882.1:p.Gln455Arg
XM_011509581.1:c.1364A>G (NCF2)	XP_011507883.1:p.Gln455Arg
NM_000433.4:c.1364A>G (NCF2) MANE Select	NP_000424.2:p.Gln455Arg
NM_001127651.3:c.1364A>G (NCF2)	NP_001121123.1:p.Gln455Arg
NM_001190789.2:c.1121A>G (NCF2)	NP_001177718.1:p.Gln374Arg
NM_001190794.2:c.1229A>G (NCF2)	NP_001177723.1:p.Gln410Arg