Canonical Allele Identifier: CA527654533

Gene: NCF2 SMG7

Linked Data

• dbSNP Id: rs1162685346
• gnomAD v2: 1-183559512-GAA-G
• gnomAD v4: 1-183590377-GAA-G
• MyVariant Identifiers: chr1:g.183559513_183559514del (hg19) ; chr1:g.183590378_183590379del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.183590378_183590379del , CM000663.2:g.183590378_183590379del	GRCh38
NC_000001.10:g.183559513_183559514del , CM000663.1:g.183559513_183559514del	GRCh37
NC_000001.9:g.181826136_181826137del	NCBI36
NG_007267.1:g.5203_5204del , LRG_88:g.5203_5204del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697330.1:c.-30-20_-30-19del (NCF2)	ENSP00000513258.1:n.-30-20_-30-19del
ENST00000697351.1:c.-50_-49del (NCF2)	ENSP00000513276.1:n.-50_-49del
ENST00000697352.1:n.71-20_71-19del (NCF2)
ENST00000697353.1:n.84-20_84-19del (NCF2)
ENST00000367535.8:c.-50_-49del (NCF2) MANE Select	ENSP00000356505.4:n.-50_-49del
ENST00000367535.7:c.-50_-49del (NCF2)	ENSP00000356505.3:n.-50_-49del
ENST00000367536.5:c.-30-20_-30-19del (NCF2)	ENSP00000356506.1:n.-30-20_-30-19del
ENST00000413720.5:c.-50_-49del (NCF2)	ENSP00000399294.1:n.-50_-49del
ENST00000418089.5:c.-50_-49del (NCF2)	ENSP00000407217.1:n.-50_-49del
ENST00000495321.1:n.234-7391_234-7390del (SMG7)
NM_000433.3:c.-50_-49del , LRG_88t1:c.-50_-49del (NCF2)	NP_000424.2:n.-50_-49del
NM_001127651.2:c.-30-20_-30-19del (NCF2)	NP_001121123.1:n.-30-20_-30-19del
NM_001190789.1:c.-50_-49del (NCF2)	NP_001177718.1:n.-50_-49del
NM_001190794.1:c.-50_-49del (NCF2)	NP_001177723.1:n.-50_-49del
XM_005245207.1:c.-50_-49del (NCF2)	XP_005245264.1:n.-50_-49del
XM_011509580.1:c.-30-20_-30-19del (NCF2)	XP_011507882.1:n.-30-20_-30-19del
XM_011509581.1:c.-30-20_-30-19del (NCF2)	XP_011507883.1:n.-30-20_-30-19del
XR_921801.1:n.155_156del (NCF2)
NM_000433.4:c.-50_-49del (NCF2) MANE Select	NP_000424.2:n.-50_-49del
NM_001127651.3:c.-30-20_-30-19del (NCF2)	NP_001121123.1:n.-30-20_-30-19del
NM_001190789.2:c.-50_-49del (NCF2)	NP_001177718.1:n.-50_-49del
NM_001190794.2:c.-50_-49del (NCF2)	NP_001177723.1:n.-50_-49del