Canonical Allele Identifier: CA305206384
Community Standard Title: NM_001397406.1(FDX2):c.308-221G>C
Gene: FDX2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10311161C>G , CM000681.2:g.10311161C>G GRCh38
NC_000019.9:g.10421837C>G , CM000681.1:g.10421837C>G GRCh37
NC_000019.8:g.10282837C>G NCBI36
NG_034259.1:g.9855G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001397406.1:c.308-221G>C MANE Select NP_001384335.1:n.308-221G>C
ENST00000393708.3:c.317-221G>C MANE Select ENSP00000377311.4:n.317-221G>C
NM_001031734.3:c.317-221G>C NP_001026904.2:n.317-221G>C
NM_001031734.4:c.317-221G>C NP_001026904.2:n.317-221G>C
ENST00000343376.8:n.417-221G>C
ENST00000452032.6:c.317-221G>C ENSP00000408510.2:n.317-221G>C
ENST00000453681.1:n.414-221G>C
ENST00000460631.5:n.520-221G>C
ENST00000492239.5:c.-98-221G>C ENSP00000488228.1:n.-98-221G>C
ENST00000493771.2:n.172-221G>C
ENST00000494368.5:c.-98-221G>C ENSP00000467188.1:n.-98-221G>C
ENST00000706663.1:c.52-739G>C ENSP00000516489.1:n.52-739G>C