Canonical Allele Identifier: CA343704466

Gene: NCF2 SMG7

Linked Data

• MyVariant Identifiers: chr1:g.183532583T>A (hg19) ; chr1:g.183563448T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.183563448T>A , CM000663.2:g.183563448T>A	GRCh38
NC_000001.10:g.183532583T>A , CM000663.1:g.183532583T>A	GRCh37
NC_000001.9:g.181799206T>A	NCBI36
NG_007267.1:g.32134A>T , LRG_88:g.32134A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000469280.2:n.604A>T (NCF2)
ENST00000697329.1:n.1084A>T (NCF2)
ENST00000697330.1:c.1164A>T (NCF2)	ENSP00000513258.1:p.Glu388Asp
ENST00000697351.1:c.1056A>T (NCF2)	ENSP00000513276.1:p.Glu352Asp
ENST00000367535.8:c.1164A>T (NCF2) MANE Select	ENSP00000356505.4:p.Glu388Asp
ENST00000367535.7:c.1164A>T (NCF2)	ENSP00000356505.3:p.Glu388Asp
ENST00000367536.5:c.1164A>T (NCF2)	ENSP00000356506.1:p.Glu388Asp
ENST00000413720.5:c.1029A>T (NCF2)	ENSP00000399294.1:p.Glu343Asp
ENST00000418089.5:c.921A>T (NCF2)	ENSP00000407217.1:p.Glu307Asp
ENST00000419402.1:c.381A>T (NCF2)	ENSP00000406198.1:p.Glu127Asp
ENST00000420553.5:c.117A>T (NCF2)	ENSP00000397228.1:p.Glu39Asp
ENST00000469280.1:n.604A>T (NCF2)
ENST00000495321.1:n.233+12258T>A (SMG7)
NM_000433.3:c.1164A>T , LRG_88t1:c.1164A>T (NCF2)	NP_000424.2:p.Glu388Asp
NM_001127651.2:c.1164A>T (NCF2)	NP_001121123.1:p.Glu388Asp
NM_001190789.1:c.921A>T (NCF2)	NP_001177718.1:p.Glu307Asp
NM_001190794.1:c.1029A>T (NCF2)	NP_001177723.1:p.Glu343Asp
XM_005245207.1:c.1056A>T (NCF2)	XP_005245264.1:p.Glu352Asp
XM_011509580.1:c.1164A>T (NCF2)	XP_011507882.1:p.Glu388Asp
XM_011509581.1:c.1164A>T (NCF2)	XP_011507883.1:p.Glu388Asp
XR_921801.1:n.1226A>T (NCF2)
NM_000433.4:c.1164A>T (NCF2) MANE Select	NP_000424.2:p.Glu388Asp
NM_001127651.3:c.1164A>T (NCF2)	NP_001121123.1:p.Glu388Asp
NM_001190789.2:c.921A>T (NCF2)	NP_001177718.1:p.Glu307Asp
NM_001190794.2:c.1029A>T (NCF2)	NP_001177723.1:p.Glu343Asp