Canonical Allele Identifier: CA343679384

Gene: NCF2 SMG7

Linked Data

• ClinVar Variation Id: 1379924
• ClinVar RCV Id: RCV001886123
• dbSNP Id: rs119103276
• gnomAD v2: 1-183546802-G-T
• gnomAD v4: 1-183577667-G-T
• MyVariant Identifiers: chr1:g.183546802G>T (hg19) ; chr1:g.183577667G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.183577667G>T , CM000663.2:g.183577667G>T	GRCh38
NC_000001.10:g.183546802G>T , CM000663.1:g.183546802G>T	GRCh37
NC_000001.9:g.181813425G>T	NCBI36
NG_007267.1:g.17915C>A , LRG_88:g.17915C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000697329.1:n.218C>A (NCF2)
ENST00000697330.1:c.298C>A (NCF2)	ENSP00000513258.1:p.Gln100Lys
ENST00000697351.1:c.298C>A (NCF2)	ENSP00000513276.1:p.Gln100Lys
ENST00000697352.1:n.398C>A (NCF2)
ENST00000697353.1:n.411C>A (NCF2)
ENST00000367535.8:c.298C>A (NCF2) MANE Select	ENSP00000356505.4:p.Gln100Lys
ENST00000367535.7:c.298C>A (NCF2)	ENSP00000356505.3:p.Gln100Lys
ENST00000367536.5:c.298C>A (NCF2)	ENSP00000356506.1:p.Gln100Lys
ENST00000413720.5:c.298C>A (NCF2)	ENSP00000399294.1:p.Gln100Lys
ENST00000418089.5:c.298C>A (NCF2)	ENSP00000407217.1:p.Gln100Lys
ENST00000495321.1:n.234-20102G>T (SMG7)
NM_000433.3:c.298C>A , LRG_88t1:c.298C>A (NCF2)	NP_000424.2:p.Gln100Lys
NM_001127651.2:c.298C>A (NCF2)	NP_001121123.1:p.Gln100Lys
NM_001190789.1:c.298C>A (NCF2)	NP_001177718.1:p.Gln100Lys
NM_001190794.1:c.298C>A (NCF2)	NP_001177723.1:p.Gln100Lys
XM_005245207.1:c.298C>A (NCF2)	XP_005245264.1:p.Gln100Lys
XM_011509580.1:c.298C>A (NCF2)	XP_011507882.1:p.Gln100Lys
XM_011509581.1:c.298C>A (NCF2)	XP_011507883.1:p.Gln100Lys
XR_921801.1:n.502C>A (NCF2)
NM_000433.4:c.298C>A (NCF2) MANE Select	NP_000424.2:p.Gln100Lys
NM_001127651.3:c.298C>A (NCF2)	NP_001121123.1:p.Gln100Lys
NM_001190789.2:c.298C>A (NCF2)	NP_001177718.1:p.Gln100Lys
NM_001190794.2:c.298C>A (NCF2)	NP_001177723.1:p.Gln100Lys