Canonical Allele Identifier: CA1211968158

Linked Data

dbSNP Id: rs1673599698

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.183590580G>C , CM000663.2:g.183590580G>C GRCh38
NC_000001.10:g.183559715G>C , CM000663.1:g.183559715G>C GRCh37
NC_000001.9:g.181826338G>C NCBI36
NG_007267.1:g.5002C>G , LRG_88:g.5002C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000697330.1:c.-30-221C>G (NCF2) ENSP00000513258.1:n.-30-221C>G
ENST00000697352.1:n.12C>G (NCF2)
ENST00000697353.1:n.83+43C>G (NCF2)
ENST00000367535.7:c.-251C>G (NCF2) ENSP00000356505.3:n.-251C>G
ENST00000367536.5:c.-30-221C>G (NCF2) ENSP00000356506.1:n.-30-221C>G
ENST00000413720.5:c.-251C>G (NCF2) ENSP00000399294.1:n.-251C>G
ENST00000418089.5:c.-251C>G (NCF2) ENSP00000407217.1:n.-251C>G
ENST00000495321.1:n.234-7189G>C (SMG7)
NM_000433.3:c.-251C>G , LRG_88t1:c.-251C>G (NCF2) NP_000424.2:n.-251C>G
NM_001127651.2:c.-30-221C>G (NCF2) NP_001121123.1:n.-30-221C>G
NM_001190789.1:c.-251C>G (NCF2) NP_001177718.1:n.-251C>G
NM_001190794.1:c.-251C>G (NCF2) NP_001177723.1:n.-251C>G
XM_011509580.1:c.-31+43C>G (NCF2) XP_011507882.1:n.-31+43C>G
XM_011509581.1:c.-89C>G (NCF2) XP_011507883.1:n.-89C>G
NM_001127651.3:c.-30-221C>G (NCF2) NP_001121123.1:n.-30-221C>G