Canonical Allele Identifier: CA422295412

Gene: NCF2 SMG7

Linked Data

• COSMIC: COSM5452796
• MyVariant Identifiers: chr1:g.183532601T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.183563466T>C , CM000663.2:g.183563466T>C	GRCh38
NC_000001.10:g.183532601T>C , CM000663.1:g.183532601T>C	GRCh37
NC_000001.9:g.181799224T>C	NCBI36
NG_007267.1:g.32116A>G , LRG_88:g.32116A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000469280.2:n.586A>G (NCF2)
ENST00000697329.1:n.1066A>G (NCF2)
ENST00000697330.1:c.1146A>G (NCF2)	ENSP00000513258.1:p.Lys382=
ENST00000697351.1:c.1038A>G (NCF2)	ENSP00000513276.1:p.Lys346=
ENST00000367535.8:c.1146A>G (NCF2) MANE Select	ENSP00000356505.4:p.Lys382=
ENST00000367535.7:c.1146A>G (NCF2)	ENSP00000356505.3:p.Lys382=
ENST00000367536.5:c.1146A>G (NCF2)	ENSP00000356506.1:p.Lys382=
ENST00000413720.5:c.1011A>G (NCF2)	ENSP00000399294.1:p.Lys337=
ENST00000418089.5:c.903A>G (NCF2)	ENSP00000407217.1:p.Lys301=
ENST00000419402.1:c.363A>G (NCF2)	ENSP00000406198.1:p.Lys121=
ENST00000420553.5:c.99A>G (NCF2)	ENSP00000397228.1:p.Lys33=
ENST00000469280.1:n.586A>G (NCF2)
ENST00000495321.1:n.233+12276T>C (SMG7)
NM_000433.3:c.1146A>G , LRG_88t1:c.1146A>G (NCF2)	NP_000424.2:p.Lys382=
NM_001127651.2:c.1146A>G (NCF2)	NP_001121123.1:p.Lys382=
NM_001190789.1:c.903A>G (NCF2)	NP_001177718.1:p.Lys301=
NM_001190794.1:c.1011A>G (NCF2)	NP_001177723.1:p.Lys337=
XM_005245207.1:c.1038A>G (NCF2)	XP_005245264.1:p.Lys346=
XM_011509580.1:c.1146A>G (NCF2)	XP_011507882.1:p.Lys382=
XM_011509581.1:c.1146A>G (NCF2)	XP_011507883.1:p.Lys382=
XR_921801.1:n.1208A>G (NCF2)
NM_000433.4:c.1146A>G (NCF2) MANE Select	NP_000424.2:p.Lys382=
NM_001127651.3:c.1146A>G (NCF2)	NP_001121123.1:p.Lys382=
NM_001190789.2:c.903A>G (NCF2)	NP_001177718.1:p.Lys301=
NM_001190794.2:c.1011A>G (NCF2)	NP_001177723.1:p.Lys337=