Canonical Allele Identifier: CA9191309
Gene: FDX2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10315746A>C , CM000681.2:g.10315746A>C GRCh38
NC_000019.9:g.10426422A>C , CM000681.1:g.10426422A>C GRCh37
NC_000019.8:g.10287422A>C NCBI36
NG_034259.1:g.5270T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000706663.1:c.51+200T>G ENSP00000516489.1:n.51+200T>G
ENST00000343376.8:n.268T>G
ENST00000393708.3:c.168T>G MANE Select ENSP00000377311.4:p.Ala56=
ENST00000452032.6:c.168T>G ENSP00000408510.2:p.Ala56=
ENST00000453681.1:n.265T>G
ENST00000460631.5:n.159T>G
ENST00000486454.1:n.169T>G
ENST00000492239.5:c.-308T>G ENSP00000488228.1:n.-308T>G
ENST00000493771.2:n.23T>G
ENST00000494368.5:c.-247T>G ENSP00000467188.1:n.-247T>G
ENST00000586529.1:c.1787T>G ENSP00000467814.1:n.1787T>G
NM_001031734.3:c.168T>G NP_001026904.2:p.Ala56=
NM_001031734.4:c.168T>G NP_001026904.2:p.Ala56=
NM_001397406.1:c.159T>G MANE Select NP_001384335.1:p.Ala53=