Canonical Allele Identifier: CA2649486361

Gene: NCF2 SMG7

Linked Data

• gnomAD v4: 1-183590704-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.183590704C>A , CM000663.2:g.183590704C>A	GRCh38
NC_000001.10:g.183559839C>A , CM000663.1:g.183559839C>A	GRCh37
NC_000001.9:g.181826462C>A	NCBI36
NG_007267.1:g.4878G>T , LRG_88:g.4878G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697330.1:c.-31+136G>T (NCF2)	ENSP00000513258.1:n.-31+136G>T
ENST00000697353.1:n.2G>T (NCF2)
ENST00000367536.5:c.-31+136G>T (NCF2)	ENSP00000356506.1:n.-31+136G>T
ENST00000495321.1:n.234-7065C>A (SMG7)
NM_001127651.2:c.-31+136G>T (NCF2)	NP_001121123.1:n.-31+136G>T
XM_011509580.1:c.-112G>T (NCF2)	XP_011507882.1:n.-112G>T
NM_001127651.3:c.-31+136G>T (NCF2)	NP_001121123.1:n.-31+136G>T