Canonical Allele Identifier: CA343704557

Gene: NCF2 SMG7

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.183563492G>A , CM000663.2:g.183563492G>A	GRCh38
NC_000001.10:g.183532627G>A , CM000663.1:g.183532627G>A	GRCh37
NC_000001.9:g.181799250G>A	NCBI36
NG_007267.1:g.32090C>T , LRG_88:g.32090C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000469280.2:n.560C>T (NCF2)
ENST00000697329.1:n.1040C>T (NCF2)
ENST00000697330.1:c.1120C>T (NCF2)	ENSP00000513258.1:p.Gln374Ter
ENST00000697351.1:c.1012C>T (NCF2)	ENSP00000513276.1:p.Gln338Ter
ENST00000367535.8:c.1120C>T (NCF2) MANE Select	ENSP00000356505.4:p.Gln374Ter
ENST00000367535.7:c.1120C>T (NCF2)	ENSP00000356505.3:p.Gln374Ter
ENST00000367536.5:c.1120C>T (NCF2)	ENSP00000356506.1:p.Gln374Ter
ENST00000413720.5:c.985C>T (NCF2)	ENSP00000399294.1:p.Gln329Ter
ENST00000418089.5:c.877C>T (NCF2)	ENSP00000407217.1:p.Gln293Ter
ENST00000419402.1:c.337C>T (NCF2)	ENSP00000406198.1:p.Gln113Ter
ENST00000420553.5:c.73C>T (NCF2)	ENSP00000397228.1:p.Gln25Ter
ENST00000469280.1:n.560C>T (NCF2)
ENST00000495321.1:n.233+12302G>A (SMG7)
NM_000433.3:c.1120C>T , LRG_88t1:c.1120C>T (NCF2)	NP_000424.2:p.Gln374Ter
NM_001127651.2:c.1120C>T (NCF2)	NP_001121123.1:p.Gln374Ter
NM_001190789.1:c.877C>T (NCF2)	NP_001177718.1:p.Gln293Ter
NM_001190794.1:c.985C>T (NCF2)	NP_001177723.1:p.Gln329Ter
XM_005245207.1:c.1012C>T (NCF2)	XP_005245264.1:p.Gln338Ter
XM_011509580.1:c.1120C>T (NCF2)	XP_011507882.1:p.Gln374Ter
XM_011509581.1:c.1120C>T (NCF2)	XP_011507883.1:p.Gln374Ter
XR_921801.1:n.1182C>T (NCF2)
NM_000433.4:c.1120C>T (NCF2) MANE Select	NP_000424.2:p.Gln374Ter
NM_001127651.3:c.1120C>T (NCF2)	NP_001121123.1:p.Gln374Ter
NM_001190789.2:c.877C>T (NCF2)	NP_001177718.1:p.Gln293Ter
NM_001190794.2:c.985C>T (NCF2)	NP_001177723.1:p.Gln329Ter