Canonical Allele Identifier: CA2746921474

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.183590652C>G , CM000663.2:g.183590652C>G GRCh38
NC_000001.10:g.183559787C>G , CM000663.1:g.183559787C>G GRCh37
NC_000001.9:g.181826410C>G NCBI36
NG_007267.1:g.4930G>C , LRG_88:g.4930G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000697330.1:c.-31+188G>C (NCF2) ENSP00000513258.1:n.-31+188G>C
ENST00000697353.1:n.54G>C (NCF2)
ENST00000367536.5:c.-31+188G>C (NCF2) ENSP00000356506.1:n.-31+188G>C
ENST00000495321.1:n.234-7117C>G (SMG7)
NM_001127651.2:c.-31+188G>C (NCF2) NP_001121123.1:n.-31+188G>C
XM_011509580.1:c.-60G>C (NCF2) XP_011507882.1:n.-60G>C
NM_001127651.3:c.-31+188G>C (NCF2) NP_001121123.1:n.-31+188G>C