Canonical Allele Identifier: CA2988601

Gene: COQ2

Linked Data

• dbSNP Id: rs778590200
• ExAC: 4:84194767 TAACCTTAA / T
• gnomAD v4: 4-83273614-TAACCTTAA-T
• MyVariant Identifiers: chr4:g.84194768_84194775del (hg19) ; chr4:g.83273615_83273622del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.83273618_83273625del , CM000666.2:g.83273618_83273625del	GRCh38
NC_000004.11:g.84194771_84194778del , CM000666.1:g.84194771_84194778del	GRCh37
NC_000004.10:g.84413795_84413802del	NCBI36
NG_015825.1:g.16293_16300del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311469.9:c.571-5_573del
ENST00000647002.2:c.421-5_423del
ENST00000311461.7:c.421-5_423del
ENST00000311469.8:c.571-5_573del
ENST00000503391.5:c.421-5_423del
ENST00000503915.5:c.112-5_114del
ENST00000514935.1:n.333-5_335del
NM_015697.7:c.571-5_573del
XM_011531855.1:c.571-5_573del
XM_011531856.1:c.571-5_573del
XM_011531857.1:c.571-5_573del
XM_011531858.1:c.571-5_573del
XM_011531859.1:c.571-5_573del
XM_011531860.1:c.571-5_573del
XM_011531861.1:c.571-5_573del
XM_011531862.1:c.571-5_573del
XM_011531863.1:c.571-5_573del
XM_011531864.1:c.571-5_573del
XM_011531865.1:c.571-5_573del
XM_011531866.1:c.571-5_573del
XM_011531867.1:c.217-5_219del
XR_427543.2:n.730-5_732del
XR_938721.1:n.746-5_748del
NM_001358921.1:c.421-5_423del
NM_015697.8:c.571-5_573del
XM_011531855.3:c.421-5_423del
XM_011531857.3:c.421-5_423del
XM_011531859.3:c.421-5_423del
XM_011531860.3:c.421-5_423del
XM_011531862.3:c.421-5_423del
XM_011531863.3:c.421-5_423del
XM_011531866.3:c.421-5_423del
XM_011531867.3:c.217-5_219del
XM_017008031.2:c.217-5_219del
XR_001741203.2:n.452-5_454del
XR_001741204.2:n.452-5_454del
XR_427543.4:n.452-5_454del
XR_938721.3:n.452-5_454del
NM_001358921.2:c.421-5_423del
NM_015697.9:c.571-5_573del