Canonical Allele Identifier: CA1285047

Gene: NCF2 SMG7

Linked Data

• dbSNP Id: rs751644304
• ExAC: 1:183559269 G / A
• gnomAD v2: 1-183559269-G-A
• gnomAD v3: 1-183590134-G-A
• gnomAD v4: 1-183590134-G-A
• MyVariant Identifiers: chr1:g.183559269G>A (hg19) ; chr1:g.183590134G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.183590134G>A , CM000663.2:g.183590134G>A	GRCh38
NC_000001.10:g.183559269G>A , CM000663.1:g.183559269G>A	GRCh37
NC_000001.9:g.181825892G>A	NCBI36
NG_007267.1:g.5448C>T , LRG_88:g.5448C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697330.1:c.174+22C>T (NCF2)	ENSP00000513258.1:n.174+22C>T
ENST00000697351.1:c.174+22C>T (NCF2)	ENSP00000513276.1:n.174+22C>T
ENST00000697352.1:n.274+22C>T (NCF2)
ENST00000697353.1:n.287+22C>T (NCF2)
ENST00000367535.8:c.174+22C>T (NCF2) MANE Select	ENSP00000356505.4:n.174+22C>T
ENST00000367535.7:c.174+22C>T (NCF2)	ENSP00000356505.3:n.174+22C>T
ENST00000367536.5:c.174+22C>T (NCF2)	ENSP00000356506.1:n.174+22C>T
ENST00000413720.5:c.174+22C>T (NCF2)	ENSP00000399294.1:n.174+22C>T
ENST00000418089.5:c.174+22C>T (NCF2)	ENSP00000407217.1:n.174+22C>T
ENST00000495321.1:n.234-7635G>A (SMG7)
NM_000433.3:c.174+22C>T , LRG_88t1:c.174+22C>T (NCF2)	NP_000424.2:n.174+22C>T
NM_001127651.2:c.174+22C>T (NCF2)	NP_001121123.1:n.174+22C>T
NM_001190789.1:c.174+22C>T (NCF2)	NP_001177718.1:n.174+22C>T
NM_001190794.1:c.174+22C>T (NCF2)	NP_001177723.1:n.174+22C>T
XM_005245207.1:c.174+22C>T (NCF2)	XP_005245264.1:n.174+22C>T
XM_011509580.1:c.174+22C>T (NCF2)	XP_011507882.1:n.174+22C>T
XM_011509581.1:c.174+22C>T (NCF2)	XP_011507883.1:n.174+22C>T
XR_921801.1:n.378+22C>T (NCF2)
NM_000433.4:c.174+22C>T (NCF2) MANE Select	NP_000424.2:n.174+22C>T
NM_001127651.3:c.174+22C>T (NCF2)	NP_001121123.1:n.174+22C>T
NM_001190789.2:c.174+22C>T (NCF2)	NP_001177718.1:n.174+22C>T
NM_001190794.2:c.174+22C>T (NCF2)	NP_001177723.1:n.174+22C>T