Canonical Allele Identifier: CA527615527

Gene: NCF2 SMG7

Linked Data

• dbSNP Id: rs1558090427
• gnomAD v2: 1-183529242-AC-A
• gnomAD v4: 1-183560107-AC-A
• MyVariant Identifiers: chr1:g.183529243del (hg19) ; chr1:g.183560108del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.183560109del , CM000663.2:g.183560109del	GRCh38
NC_000001.10:g.183529244del , CM000663.1:g.183529244del	GRCh37
NC_000001.9:g.181795867del	NCBI36
NG_007267.1:g.35474del , LRG_88:g.35474del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000469280.2:n.896del (NCF2)
ENST00000697329.1:n.1376del (NCF2)
ENST00000697330.1:c.1456del (NCF2)	ENSP00000513258.1:p.Val486CysfsTer5
ENST00000697351.1:c.1348del (NCF2)	ENSP00000513276.1:p.Val450CysfsTer5
ENST00000367535.8:c.1456del (NCF2) MANE Select	ENSP00000356505.4:p.Val486CysfsTer5
ENST00000367535.7:c.1456del (NCF2)	ENSP00000356505.3:p.Val486CysfsTer5
ENST00000367536.5:c.1456del (NCF2)	ENSP00000356506.1:p.Val486CysfsTer5
ENST00000413720.5:c.1321del (NCF2)	ENSP00000399294.1:p.Val441CysfsTer5
ENST00000418089.5:c.1213del (NCF2)	ENSP00000407217.1:p.Val405CysfsTer5
ENST00000495321.1:n.233+8919del (SMG7)
NM_000433.3:c.1456del , LRG_88t1:c.1456del (NCF2)	NP_000424.2:p.Val486CysfsTer5
NM_001127651.2:c.1456del (NCF2)	NP_001121123.1:p.Val486CysfsTer5
NM_001190789.1:c.1213del (NCF2)	NP_001177718.1:p.Val405CysfsTer5
NM_001190794.1:c.1321del (NCF2)	NP_001177723.1:p.Val441CysfsTer5
XM_005245207.1:c.1348del (NCF2)	XP_005245264.1:p.Val450CysfsTer5
XM_011509580.1:c.1456del (NCF2)	XP_011507882.1:p.Val486CysfsTer5
XM_011509581.1:c.1456del (NCF2)	XP_011507883.1:p.Val486CysfsTer5
NM_000433.4:c.1456del (NCF2) MANE Select	NP_000424.2:p.Val486CysfsTer5
NM_001127651.3:c.1456del (NCF2)	NP_001121123.1:p.Val486CysfsTer5
NM_001190789.2:c.1213del (NCF2)	NP_001177718.1:p.Val405CysfsTer5
NM_001190794.2:c.1321del (NCF2)	NP_001177723.1:p.Val441CysfsTer5