Canonical Allele Identifier: CA678946511

Gene: SDHAF2

Linked Data

• dbSNP Id: rs1342799664
• gnomAD v4: 11-61446457-TCCCGCCCTCCCTGCAGCTCCCCGCCCTCAGTGGCCCAGGGCTTTG-T
• MyVariant Identifiers: chr11:g.61213930_61213974del (hg19) ; chr11:g.61446458_61446502del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61446458_61446502del , CM000673.2:g.61446458_61446502del	GRCh38
NC_000011.9:g.61213930_61213974del , CM000673.1:g.61213930_61213974del	GRCh37
NC_000011.8:g.60970506_60970550del	NCBI36
NG_023393.1:g.21334_21378del , LRG_519:g.21334_21378del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301761.7:c.*387_*431del MANE Select	ENSP00000301761.3:n.*387_*431del
ENST00000301761.6:c.*387_*431del	ENSP00000301761.2:n.*387_*431del
ENST00000536670.5:n.396+8345_396+8389del
ENST00000538594.5:c.370+8345_370+8389del	ENSP00000440939.1:n.370+8345_370+8389del
ENST00000541135.5:c.377+8338_377+8382del	ENSP00000443130.1:n.377+8338_377+8382del
ENST00000542074.1:c.*467_*511del	ENSP00000469670.1:n.*467_*511del
ENST00000543044.2:c.*160+227_*160+271del	ENSP00000440219.1:n.*160+227_*160+271del
ENST00000544025.5:n.465+8345_465+8389del
ENST00000544801.5:c.370+8345_370+8389del	ENSP00000442581.1:n.370+8345_370+8389del
ENST00000544880.1:n.374+8345_374+8389del
NM_017841.2:c.*387_*431del , LRG_519t1:c.*387_*431del	NP_060311.1:n.*387_*431del
NM_017841.4:c.*387_*431del MANE Select	NP_060311.1:n.*387_*431del