Canonical Allele Identifier: CA2649486400

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.183590738A>G , CM000663.2:g.183590738A>G GRCh38
NC_000001.10:g.183559873A>G , CM000663.1:g.183559873A>G GRCh37
NC_000001.9:g.181826496A>G NCBI36
NG_007267.1:g.4844T>C , LRG_88:g.4844T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000697330.1:c.-31+102T>C (NCF2) ENSP00000513258.1:n.-31+102T>C
ENST00000367536.5:c.-31+102T>C (NCF2) ENSP00000356506.1:n.-31+102T>C
ENST00000495321.1:n.234-7031A>G (SMG7)
NM_001127651.2:c.-31+102T>C (NCF2) NP_001121123.1:n.-31+102T>C
NM_001127651.3:c.-31+102T>C (NCF2) NP_001121123.1:n.-31+102T>C