Canonical Allele Identifier: CA1211968191

Gene: NCF2 SMG7

Linked Data

• dbSNP Id: rs1673602522
• gnomAD v4: 1-183590647-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.183590647T>C , CM000663.2:g.183590647T>C	GRCh38
NC_000001.10:g.183559782T>C , CM000663.1:g.183559782T>C	GRCh37
NC_000001.9:g.181826405T>C	NCBI36
NG_007267.1:g.4935A>G , LRG_88:g.4935A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697330.1:c.-31+193A>G (NCF2)	ENSP00000513258.1:n.-31+193A>G
ENST00000697353.1:n.59A>G (NCF2)
ENST00000367536.5:c.-31+193A>G (NCF2)	ENSP00000356506.1:n.-31+193A>G
ENST00000495321.1:n.234-7122T>C (SMG7)
NM_001127651.2:c.-31+193A>G (NCF2)	NP_001121123.1:n.-31+193A>G
XM_011509580.1:c.-55A>G (NCF2)	XP_011507882.1:n.-55A>G
NM_001127651.3:c.-31+193A>G (NCF2)	NP_001121123.1:n.-31+193A>G