Canonical Allele Identifier: CA678946432

Gene: SDHAF2

Linked Data

• dbSNP Id: rs1395979927
• gnomAD v3: 11-61446249-CTCAT-C
• gnomAD v4: 11-61446249-CTCAT-C
• MyVariant Identifiers: chr11:g.61213722_61213725del (hg19) ; chr11:g.61446250_61446253del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61446252_61446255del , CM000673.2:g.61446252_61446255del	GRCh38
NC_000011.9:g.61213724_61213727del , CM000673.1:g.61213724_61213727del	GRCh37
NC_000011.8:g.60970300_60970303del	NCBI36
NG_023393.1:g.21128_21131del , LRG_519:g.21128_21131del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301761.7:c.*181_*184del MANE Select	ENSP00000301761.3:n.*181_*184del
ENST00000301761.6:c.*181_*184del	ENSP00000301761.2:n.*181_*184del
ENST00000536670.5:n.396+8139_396+8142del
ENST00000538594.5:c.370+8139_370+8142del	ENSP00000440939.1:n.370+8139_370+8142del
ENST00000541135.5:c.377+8132_377+8135del	ENSP00000443130.1:n.377+8132_377+8135del
ENST00000542074.1:c.*261_*264del	ENSP00000469670.1:n.*261_*264del
ENST00000542794.5:c.*684_*687del	ENSP00000439983.1:n.*684_*687del
ENST00000543044.2:c.*160+21_*160+24del	ENSP00000440219.1:n.*160+21_*160+24del
ENST00000544025.5:n.465+8139_465+8142del
ENST00000544801.5:c.370+8139_370+8142del	ENSP00000442581.1:n.370+8139_370+8142del
ENST00000544880.1:n.374+8139_374+8142del
NM_017841.2:c.*181_*184del , LRG_519t1:c.*181_*184del	NP_060311.1:n.*181_*184del
NM_017841.4:c.*181_*184del MANE Select	NP_060311.1:n.*181_*184del