Canonical Allele Identifier: CA767265722

Gene: HADHA GAREM2

Linked Data

• ClinVar Variation Id: 1459829
• ClinVar RCV Id: RCV001963175
• dbSNP Id: rs1478391725
• MyVariant Identifiers: chr2:g.26418041del (hg19) ; chr2:g.26195172del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26195172del , CM000664.2:g.26195172del	GRCh38
NC_000002.11:g.26418041del , CM000664.1:g.26418041del	GRCh37
NC_000002.10:g.26271545del	NCBI36
NG_007121.1:g.54449del
NG_007121.2:g.54450del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1540del (HADHA) MANE Select	ENSP00000370023.3:p.Thr514ProfsTer13
ENST00000492433.2:c.1540del (HADHA)	ENSP00000438039.2:p.Thr514ProfsTer13
ENST00000643057.1:c.*1431del (HADHA)	ENSP00000493761.1:n.*1431del
ENST00000643063.1:c.*586del (HADHA)	ENSP00000495353.1:n.*586del
ENST00000643233.1:c.*1431del (HADHA)	ENSP00000493880.1:n.*1431del
ENST00000644428.1:c.*164del (HADHA)	ENSP00000495560.1:n.*164del
ENST00000645274.1:c.1435del (HADHA)	ENSP00000493996.1:p.Thr479ProfsTer13
ENST00000646031.1:c.899del (HADHA)
ENST00000646483.1:c.1406del (HADHA)	ENSP00000496185.1:n.1406del
ENST00000380649.7:c.1540del (HADHA)	ENSP00000370023.3:p.Thr514ProfsTer13
NM_000182.4:c.1540del (HADHA)	NP_000173.2:p.Thr514ProfsTer13
XM_011532567.1:c.1684-7061del (GAREM2)	XP_011530869.1:n.1684-7061del
XM_011532567.3:c.1684-7061del (GAREM2)	XP_011530869.1:n.1684-7061del
NM_000182.5:c.1540del (HADHA) MANE Select	NP_000173.2:p.Thr514ProfsTer13