Canonical Allele Identifier: CA422295458

Gene: NCF2 SMG7

Linked Data

• ClinVar Variation Id: 1643109
• ClinVar RCV Id: RCV002135873
• dbSNP Id: rs2102883157
• MyVariant Identifiers: chr1:g.183532685G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.183563550G>A , CM000663.2:g.183563550G>A	GRCh38
NC_000001.10:g.183532685G>A , CM000663.1:g.183532685G>A	GRCh37
NC_000001.9:g.181799308G>A	NCBI36
NG_007267.1:g.32032C>T , LRG_88:g.32032C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000469280.2:n.502C>T (NCF2)
ENST00000697329.1:n.982C>T (NCF2)
ENST00000697330.1:c.1062C>T (NCF2)	ENSP00000513258.1:p.Leu354=
ENST00000697351.1:c.954C>T (NCF2)	ENSP00000513276.1:p.Leu318=
ENST00000367535.8:c.1062C>T (NCF2) MANE Select	ENSP00000356505.4:p.Leu354=
ENST00000367535.7:c.1062C>T (NCF2)	ENSP00000356505.3:p.Leu354=
ENST00000367536.5:c.1062C>T (NCF2)	ENSP00000356506.1:p.Leu354=
ENST00000413720.5:c.927C>T (NCF2)	ENSP00000399294.1:p.Leu309=
ENST00000418089.5:c.819C>T (NCF2)	ENSP00000407217.1:p.Leu273=
ENST00000419402.1:c.279C>T (NCF2)	ENSP00000406198.1:p.Leu93=
ENST00000420553.5:c.15C>T (NCF2)	ENSP00000397228.1:p.Leu5=
ENST00000469280.1:n.502C>T (NCF2)
ENST00000495321.1:n.233+12360G>A (SMG7)
NM_000433.3:c.1062C>T , LRG_88t1:c.1062C>T (NCF2)	NP_000424.2:p.Leu354=
NM_001127651.2:c.1062C>T (NCF2)	NP_001121123.1:p.Leu354=
NM_001190789.1:c.819C>T (NCF2)	NP_001177718.1:p.Leu273=
NM_001190794.1:c.927C>T (NCF2)	NP_001177723.1:p.Leu309=
XM_005245207.1:c.954C>T (NCF2)	XP_005245264.1:p.Leu318=
XM_011509580.1:c.1062C>T (NCF2)	XP_011507882.1:p.Leu354=
XM_011509581.1:c.1062C>T (NCF2)	XP_011507883.1:p.Leu354=
XR_921801.1:n.1124C>T (NCF2)
NM_000433.4:c.1062C>T (NCF2) MANE Select	NP_000424.2:p.Leu354=
NM_001127651.3:c.1062C>T (NCF2)	NP_001121123.1:p.Leu354=
NM_001190789.2:c.819C>T (NCF2)	NP_001177718.1:p.Leu273=
NM_001190794.2:c.927C>T (NCF2)	NP_001177723.1:p.Leu309=