Canonical Allele Identifier: CA2649486370
Gene: NCF2 HGNC NCBI
SMG7 HGNC NCBI

Linked Data

gnomAD v4: 1-183590714-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.183590714T>G , CM000663.2:g.183590714T>G GRCh38
NC_000001.10:g.183559849T>G , CM000663.1:g.183559849T>G GRCh37
NC_000001.9:g.181826472T>G NCBI36
NG_007267.1:g.4868A>C , LRG_88:g.4868A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000697330.1:c.-31+126A>C (NCF2) ENSP00000513258.1:n.-31+126A>C
ENST00000367536.5:c.-31+126A>C (NCF2) ENSP00000356506.1:n.-31+126A>C
ENST00000495321.1:n.234-7055T>G (SMG7)
NM_001127651.2:c.-31+126A>C (NCF2) NP_001121123.1:n.-31+126A>C
NM_001127651.3:c.-31+126A>C (NCF2) NP_001121123.1:n.-31+126A>C
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