Canonical Allele Identifier: CA2649486353

Gene: NCF2 SMG7

Linked Data

• gnomAD v4: 1-183590698-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.183590698C>T , CM000663.2:g.183590698C>T	GRCh38
NC_000001.10:g.183559833C>T , CM000663.1:g.183559833C>T	GRCh37
NC_000001.9:g.181826456C>T	NCBI36
NG_007267.1:g.4884G>A , LRG_88:g.4884G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697330.1:c.-31+142G>A (NCF2)	ENSP00000513258.1:n.-31+142G>A
ENST00000697353.1:n.8G>A (NCF2)
ENST00000367536.5:c.-31+142G>A (NCF2)	ENSP00000356506.1:n.-31+142G>A
ENST00000495321.1:n.234-7071C>T (SMG7)
NM_001127651.2:c.-31+142G>A (NCF2)	NP_001121123.1:n.-31+142G>A
XM_011509580.1:c.-106G>A (NCF2)	XP_011507882.1:n.-106G>A
NM_001127651.3:c.-31+142G>A (NCF2)	NP_001121123.1:n.-31+142G>A