Canonical Allele Identifier: CA1284684
Gene: NCF2 HGNC NCBI

Linked Data

ClinVar Variation Id: 466297
ClinVar RCV Id: RCV000526618
dbSNP Id: rs147744729

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.183563531T>A , CM000663.2:g.183563531T>A GRCh38
NC_000001.10:g.183532666T>A , CM000663.1:g.183532666T>A GRCh37
NC_000001.9:g.181799289T>A NCBI36
NG_007267.1:g.32051A>T , LRG_88:g.32051A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000367535.8:c.1081A>T MANE Select ENSP00000356505.4:p.Thr361Ser
ENST00000367535.7:c.1081A>T ENSP00000356505.3:p.Thr361Ser
ENST00000367536.5:c.1081A>T ENSP00000356506.1:p.Thr361Ser
ENST00000413720.5:c.946A>T ENSP00000399294.1:p.Thr316Ser
ENST00000418089.5:c.838A>T ENSP00000407217.1:p.Thr280Ser
ENST00000419402.1:c.298A>T ENSP00000406198.1:p.Thr100Ser
ENST00000420553.5:c.34A>T ENSP00000397228.1:p.Thr12Ser
ENST00000469280.1:n.521A>T
ENST00000495321.1:n.233+12341T>A
NM_000433.3:c.1081A>T , LRG_88t1:c.1081A>T NP_000424.2:p.Thr361Ser
NM_001127651.2:c.1081A>T NP_001121123.1:p.Thr361Ser
NM_001190789.1:c.838A>T NP_001177718.1:p.Thr280Ser
NM_001190794.1:c.946A>T NP_001177723.1:p.Thr316Ser
XM_005245207.1:c.973A>T XP_005245264.1:p.Thr325Ser
XM_011509580.1:c.1081A>T XP_011507882.1:p.Thr361Ser
XM_011509581.1:c.1081A>T XP_011507883.1:p.Thr361Ser
XR_921801.1:n.1143A>T
NM_000433.4:c.1081A>T MANE Select NP_000424.2:p.Thr361Ser
NM_001127651.3:c.1081A>T NP_001121123.1:p.Thr361Ser
NM_001190789.2:c.838A>T NP_001177718.1:p.Thr280Ser
NM_001190794.2:c.946A>T NP_001177723.1:p.Thr316Ser