Canonical Allele Identifier: CA343684969

Gene: NCF2 SMG7

Linked Data

• ClinVar Variation Id: 847320
• ClinVar RCV Id: RCV001050845
• dbSNP Id: rs1673581250
• MyVariant Identifiers: chr1:g.183559401A>G (hg19) ; chr1:g.183590266A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.183590266A>G , CM000663.2:g.183590266A>G	GRCh38
NC_000001.10:g.183559401A>G , CM000663.1:g.183559401A>G	GRCh37
NC_000001.9:g.181826024A>G	NCBI36
NG_007267.1:g.5316T>C , LRG_88:g.5316T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697330.1:c.64T>C (NCF2)	ENSP00000513258.1:p.Trp22Arg
ENST00000697351.1:c.64T>C (NCF2)	ENSP00000513276.1:p.Trp22Arg
ENST00000697352.1:n.164T>C (NCF2)
ENST00000697353.1:n.177T>C (NCF2)
ENST00000367535.8:c.64T>C (NCF2) MANE Select	ENSP00000356505.4:p.Trp22Arg
ENST00000367535.7:c.64T>C (NCF2)	ENSP00000356505.3:p.Trp22Arg
ENST00000367536.5:c.64T>C (NCF2)	ENSP00000356506.1:p.Trp22Arg
ENST00000413720.5:c.64T>C (NCF2)	ENSP00000399294.1:p.Trp22Arg
ENST00000418089.5:c.64T>C (NCF2)	ENSP00000407217.1:p.Trp22Arg
ENST00000495321.1:n.234-7503A>G (SMG7)
NM_000433.3:c.64T>C , LRG_88t1:c.64T>C (NCF2)	NP_000424.2:p.Trp22Arg
NM_001127651.2:c.64T>C (NCF2)	NP_001121123.1:p.Trp22Arg
NM_001190789.1:c.64T>C (NCF2)	NP_001177718.1:p.Trp22Arg
NM_001190794.1:c.64T>C (NCF2)	NP_001177723.1:p.Trp22Arg
XM_005245207.1:c.64T>C (NCF2)	XP_005245264.1:p.Trp22Arg
XM_011509580.1:c.64T>C (NCF2)	XP_011507882.1:p.Trp22Arg
XM_011509581.1:c.64T>C (NCF2)	XP_011507883.1:p.Trp22Arg
XR_921801.1:n.268T>C (NCF2)
NM_000433.4:c.64T>C (NCF2) MANE Select	NP_000424.2:p.Trp22Arg
NM_001127651.3:c.64T>C (NCF2)	NP_001121123.1:p.Trp22Arg
NM_001190789.2:c.64T>C (NCF2)	NP_001177718.1:p.Trp22Arg
NM_001190794.2:c.64T>C (NCF2)	NP_001177723.1:p.Trp22Arg