Canonical Allele Identifier: CA2649486251

Gene: NCF2 SMG7

Linked Data

• gnomAD v4: 1-183590572-C-CAGAG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.183590581_183590584dup , CM000663.2:g.183590581_183590584dup	GRCh38
NC_000001.10:g.183559716_183559719dup , CM000663.1:g.183559716_183559719dup	GRCh37
NC_000001.9:g.181826339_181826342dup	NCBI36
NG_007267.1:g.5006_5009dup , LRG_88:g.5006_5009dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697330.1:c.-30-217_-30-214dup (NCF2)	ENSP00000513258.1:n.-30-217_-30-214dup
ENST00000697352.1:n.16_19dup (NCF2)
ENST00000697353.1:n.83+47_83+50dup (NCF2)
ENST00000367536.5:c.-30-217_-30-214dup (NCF2)	ENSP00000356506.1:n.-30-217_-30-214dup
ENST00000413720.5:c.-247_-244dup (NCF2)	ENSP00000399294.1:n.-247_-244dup
ENST00000418089.5:c.-247_-244dup (NCF2)	ENSP00000407217.1:n.-247_-244dup
ENST00000495321.1:n.234-7188_234-7185dup (SMG7)
NM_000433.3:c.-247_-244dup , LRG_88t1:c.-247_-244dup (NCF2)	NP_000424.2:n.-247_-244dup
NM_001127651.2:c.-30-217_-30-214dup (NCF2)	NP_001121123.1:n.-30-217_-30-214dup
NM_001190789.1:c.-247_-244dup (NCF2)	NP_001177718.1:n.-247_-244dup
NM_001190794.1:c.-247_-244dup (NCF2)	NP_001177723.1:n.-247_-244dup
XM_011509580.1:c.-31+47_-31+50dup (NCF2)	XP_011507882.1:n.-31+47_-31+50dup
XM_011509581.1:c.-85_-82dup (NCF2)	XP_011507883.1:n.-85_-82dup
NM_001127651.3:c.-30-217_-30-214dup (NCF2)	NP_001121123.1:n.-30-217_-30-214dup