Canonical Allele Identifier: CA1009918771

Gene: NCF2 SMG7

Linked Data

• dbSNP Id: rs1673602313
• gnomAD v3: 1-183590645-A-G
• gnomAD v4: 1-183590645-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.183590645A>G , CM000663.2:g.183590645A>G	GRCh38
NC_000001.10:g.183559780A>G , CM000663.1:g.183559780A>G	GRCh37
NC_000001.9:g.181826403A>G	NCBI36
NG_007267.1:g.4937T>C , LRG_88:g.4937T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697330.1:c.-31+195T>C (NCF2)	ENSP00000513258.1:n.-31+195T>C
ENST00000697353.1:n.61T>C (NCF2)
ENST00000367536.5:c.-31+195T>C (NCF2)	ENSP00000356506.1:n.-31+195T>C
ENST00000495321.1:n.234-7124A>G (SMG7)
NM_001127651.2:c.-31+195T>C (NCF2)	NP_001121123.1:n.-31+195T>C
XM_011509580.1:c.-53T>C (NCF2)	XP_011507882.1:n.-53T>C
NM_001127651.3:c.-31+195T>C (NCF2)	NP_001121123.1:n.-31+195T>C