Canonical Allele Identifier: CA2573968237

Gene: NCF2 SMG7

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.183563557dup , CM000663.2:g.183563557dup	GRCh38
NC_000001.10:g.183532692dup , CM000663.1:g.183532692dup	GRCh37
NC_000001.9:g.181799315dup	NCBI36
NG_007267.1:g.32025dup , LRG_88:g.32025dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000469280.2:n.495dup (NCF2)
ENST00000697329.1:n.975dup (NCF2)
ENST00000697330.1:c.1055dup (NCF2)	ENSP00000513258.1:p.Tyr352Ter
ENST00000697351.1:c.947dup (NCF2)	ENSP00000513276.1:p.Tyr316Ter
ENST00000367535.8:c.1055dup (NCF2) MANE Select	ENSP00000356505.4:p.Tyr352Ter
ENST00000367535.7:c.1055dup (NCF2)	ENSP00000356505.3:p.Tyr352Ter
ENST00000367536.5:c.1055dup (NCF2)	ENSP00000356506.1:p.Tyr352Ter
ENST00000413720.5:c.920dup (NCF2)	ENSP00000399294.1:p.Tyr307Ter
ENST00000418089.5:c.812dup (NCF2)	ENSP00000407217.1:p.Tyr271Ter
ENST00000419402.1:c.272dup (NCF2)	ENSP00000406198.1:p.Tyr91Ter
ENST00000420553.5:c.8dup (NCF2)	ENSP00000397228.1:p.Tyr3Ter
ENST00000469280.1:n.495dup (NCF2)
ENST00000495321.1:n.233+12367dup (SMG7)
NM_000433.3:c.1055dup , LRG_88t1:c.1055dup (NCF2)	NP_000424.2:p.Tyr352Ter
NM_001127651.2:c.1055dup (NCF2)	NP_001121123.1:p.Tyr352Ter
NM_001190789.1:c.812dup (NCF2)	NP_001177718.1:p.Tyr271Ter
NM_001190794.1:c.920dup (NCF2)	NP_001177723.1:p.Tyr307Ter
XM_005245207.1:c.947dup (NCF2)	XP_005245264.1:p.Tyr316Ter
XM_011509580.1:c.1055dup (NCF2)	XP_011507882.1:p.Tyr352Ter
XM_011509581.1:c.1055dup (NCF2)	XP_011507883.1:p.Tyr352Ter
XR_921801.1:n.1117dup (NCF2)
NM_000433.4:c.1055dup (NCF2) MANE Select	NP_000424.2:p.Tyr352Ter
NM_001127651.3:c.1055dup (NCF2)	NP_001121123.1:p.Tyr352Ter
NM_001190789.2:c.812dup (NCF2)	NP_001177718.1:p.Tyr271Ter
NM_001190794.2:c.920dup (NCF2)	NP_001177723.1:p.Tyr307Ter