Canonical Allele Identifier: CA343704591

Gene: NCF2 SMG7

Linked Data

• dbSNP Id: rs137854513
• gnomAD v2: 1-183532642-C-G
• gnomAD v4: 1-183563507-C-G
• MyVariant Identifiers: chr1:g.183532642C>G (hg19) ; chr1:g.183563507C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.183563507C>G , CM000663.2:g.183563507C>G	GRCh38
NC_000001.10:g.183532642C>G , CM000663.1:g.183532642C>G	GRCh37
NC_000001.9:g.181799265C>G	NCBI36
NG_007267.1:g.32075G>C , LRG_88:g.32075G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000469280.2:n.545G>C (NCF2)
ENST00000697329.1:n.1025G>C (NCF2)
ENST00000697330.1:c.1105G>C (NCF2)	ENSP00000513258.1:p.Gly369Arg
ENST00000697351.1:c.997G>C (NCF2)	ENSP00000513276.1:p.Gly333Arg
ENST00000367535.8:c.1105G>C (NCF2) MANE Select	ENSP00000356505.4:p.Gly369Arg
ENST00000367535.7:c.1105G>C (NCF2)	ENSP00000356505.3:p.Gly369Arg
ENST00000367536.5:c.1105G>C (NCF2)	ENSP00000356506.1:p.Gly369Arg
ENST00000413720.5:c.970G>C (NCF2)	ENSP00000399294.1:p.Gly324Arg
ENST00000418089.5:c.862G>C (NCF2)	ENSP00000407217.1:p.Gly288Arg
ENST00000419402.1:c.322G>C (NCF2)	ENSP00000406198.1:p.Gly108Arg
ENST00000420553.5:c.58G>C (NCF2)	ENSP00000397228.1:p.Gly20Arg
ENST00000469280.1:n.545G>C (NCF2)
ENST00000495321.1:n.233+12317C>G (SMG7)
NM_000433.3:c.1105G>C , LRG_88t1:c.1105G>C (NCF2)	NP_000424.2:p.Gly369Arg
NM_001127651.2:c.1105G>C (NCF2)	NP_001121123.1:p.Gly369Arg
NM_001190789.1:c.862G>C (NCF2)	NP_001177718.1:p.Gly288Arg
NM_001190794.1:c.970G>C (NCF2)	NP_001177723.1:p.Gly324Arg
XM_005245207.1:c.997G>C (NCF2)	XP_005245264.1:p.Gly333Arg
XM_011509580.1:c.1105G>C (NCF2)	XP_011507882.1:p.Gly369Arg
XM_011509581.1:c.1105G>C (NCF2)	XP_011507883.1:p.Gly369Arg
XR_921801.1:n.1167G>C (NCF2)
NM_000433.4:c.1105G>C (NCF2) MANE Select	NP_000424.2:p.Gly369Arg
NM_001127651.3:c.1105G>C (NCF2)	NP_001121123.1:p.Gly369Arg
NM_001190789.2:c.862G>C (NCF2)	NP_001177718.1:p.Gly288Arg
NM_001190794.2:c.970G>C (NCF2)	NP_001177723.1:p.Gly324Arg