Canonical Allele Identifier: CA2746921173

Gene: NCF2 SMG7

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.183563535del , CM000663.2:g.183563535del	GRCh38
NC_000001.10:g.183532670del , CM000663.1:g.183532670del	GRCh37
NC_000001.9:g.181799293del	NCBI36
NG_007267.1:g.32047del , LRG_88:g.32047del

Transcript Alleles

HGVS	Amino-acid change
ENST00000469280.2:n.517del (NCF2)
ENST00000697329.1:n.997del (NCF2)
ENST00000697330.1:c.1077del (NCF2)	ENSP00000513258.1:p.Lys359AsnfsTer4
ENST00000697351.1:c.969del (NCF2)	ENSP00000513276.1:p.Lys323AsnfsTer4
ENST00000367535.8:c.1077del (NCF2) MANE Select	ENSP00000356505.4:p.Lys359AsnfsTer4
ENST00000367535.7:c.1077del (NCF2)	ENSP00000356505.3:p.Lys359AsnfsTer4
ENST00000367536.5:c.1077del (NCF2)	ENSP00000356506.1:p.Lys359AsnfsTer4
ENST00000413720.5:c.942del (NCF2)	ENSP00000399294.1:p.Lys314AsnfsTer4
ENST00000418089.5:c.834del (NCF2)	ENSP00000407217.1:p.Lys278AsnfsTer4
ENST00000419402.1:c.294del (NCF2)	ENSP00000406198.1:p.Lys98AsnfsTer4
ENST00000420553.5:c.30del (NCF2)	ENSP00000397228.1:p.Lys10AsnfsTer4
ENST00000469280.1:n.517del (NCF2)
ENST00000495321.1:n.233+12345del (SMG7)
NM_000433.3:c.1077del , LRG_88t1:c.1077del (NCF2)	NP_000424.2:p.Lys359AsnfsTer4
NM_001127651.2:c.1077del (NCF2)	NP_001121123.1:p.Lys359AsnfsTer4
NM_001190789.1:c.834del (NCF2)	NP_001177718.1:p.Lys278AsnfsTer4
NM_001190794.1:c.942del (NCF2)	NP_001177723.1:p.Lys314AsnfsTer4
XM_005245207.1:c.969del (NCF2)	XP_005245264.1:p.Lys323AsnfsTer4
XM_011509580.1:c.1077del (NCF2)	XP_011507882.1:p.Lys359AsnfsTer4
XM_011509581.1:c.1077del (NCF2)	XP_011507883.1:p.Lys359AsnfsTer4
XR_921801.1:n.1139del (NCF2)
NM_000433.4:c.1077del (NCF2) MANE Select	NP_000424.2:p.Lys359AsnfsTer4
NM_001127651.3:c.1077del (NCF2)	NP_001121123.1:p.Lys359AsnfsTer4
NM_001190789.2:c.834del (NCF2)	NP_001177718.1:p.Lys278AsnfsTer4
NM_001190794.2:c.942del (NCF2)	NP_001177723.1:p.Lys314AsnfsTer4