Canonical Allele Identifier: CA9191366

Gene: FDX2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10315957C>G , CM000681.2:g.10315957C>G	GRCh38
NC_000019.9:g.10426633C>G , CM000681.1:g.10426633C>G	GRCh37
NC_000019.8:g.10287633C>G	NCBI36
NG_034259.1:g.5059G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706663.1:c.40G>C	ENSP00000516489.1:p.Val14Leu
ENST00000343376.8:n.57G>C
ENST00000393708.3:c.49G>C MANE Select	ENSP00000377311.4:p.Val17Leu
ENST00000452032.6:c.49G>C	ENSP00000408510.2:p.Val17Leu
ENST00000453681.1:n.54G>C
ENST00000460631.5:n.40G>C
ENST00000486454.1:n.50G>C
ENST00000494368.5:c.-261+13G>C	ENSP00000467188.1:n.-261+13G>C
ENST00000586529.1:c.1773+61G>C	ENSP00000467814.1:n.1773+61G>C
NM_001031734.3:c.49G>C	NP_001026904.2:p.Val17Leu
NM_001031734.4:c.49G>C	NP_001026904.2:p.Val17Leu
NM_001397406.1:c.40G>C MANE Select	NP_001384335.1:p.Val14Leu