Canonical Allele Identifier: CA2613847509
Gene: SDHAF2 HGNC NCBI

Linked Data

gnomAD v4: 11-61446196-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61446196C>A , CM000673.2:g.61446196C>A GRCh38
NC_000011.9:g.61213668C>A , CM000673.1:g.61213668C>A GRCh37
NC_000011.8:g.60970244C>A NCBI36
NG_023393.1:g.21072C>A , LRG_519:g.21072C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000301761.7:c.*125C>A MANE Select ENSP00000301761.3:n.*125C>A
ENST00000301761.6:c.*125C>A ENSP00000301761.2:n.*125C>A
ENST00000536670.5:n.396+8083C>A
ENST00000538594.5:c.370+8083C>A ENSP00000440939.1:n.370+8083C>A
ENST00000541135.5:c.377+8076C>A ENSP00000443130.1:n.377+8076C>A
ENST00000542074.1:c.*205C>A ENSP00000469670.1:n.*205C>A
ENST00000542794.5:c.*628C>A ENSP00000439983.1:n.*628C>A
ENST00000543044.2:c.*125C>A ENSP00000440219.1:n.*125C>A
ENST00000544025.5:n.465+8083C>A
ENST00000544801.5:c.370+8083C>A ENSP00000442581.1:n.370+8083C>A
ENST00000544880.1:n.374+8083C>A
NM_017841.2:c.*125C>A , LRG_519t1:c.*125C>A NP_060311.1:n.*125C>A
NM_017841.4:c.*125C>A MANE Select NP_060311.1:n.*125C>A
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