Canonical Allele Identifier: CA531761196

Gene: HADHA GAREM2

Linked Data

• dbSNP Id: rs1558313470
• gnomAD v2: 2-26414385-CG-C
• MyVariant Identifiers: chr2:g.26414386del (hg19) ; chr2:g.26191517del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191518del , CM000664.2:g.26191518del	GRCh38
NC_000002.11:g.26414387del , CM000664.1:g.26414387del	GRCh37
NC_000002.10:g.26267891del	NCBI36
NG_007121.1:g.58104del
NG_007121.2:g.58105del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.2112del (HADHA) MANE Select	ENSP00000370023.3:p.Val705SerfsTer25
ENST00000492433.2:c.2112del (HADHA)	ENSP00000438039.2:p.Val705SerfsTer23
ENST00000643057.1:c.*2003del (HADHA)	ENSP00000493761.1:n.*2003del
ENST00000643063.1:c.*1158del (HADHA)	ENSP00000495353.1:n.*1158del
ENST00000643233.1:c.*2003del (HADHA)	ENSP00000493880.1:n.*2003del
ENST00000644428.1:c.*736del (HADHA)	ENSP00000495560.1:n.*736del
ENST00000645274.1:c.2007del (HADHA)	ENSP00000493996.1:p.Val670SerfsTer25
ENST00000646031.1:c.1471del (HADHA)
ENST00000646483.1:c.1978del (HADHA)	ENSP00000496185.1:n.1978del
ENST00000380649.7:c.2112del (HADHA)	ENSP00000370023.3:p.Val705SerfsTer25
ENST00000492433.1:c.570del (HADHA)	ENSP00000438039.1:p.Val191SerfsTer23
NM_000182.4:c.2112del (HADHA)	NP_000173.2:p.Val705SerfsTer25
XM_011532567.1:c.1683+4203del (GAREM2)	XP_011530869.1:n.1683+4203del
XM_011532567.3:c.1683+4203del (GAREM2)	XP_011530869.1:n.1683+4203del
NM_000182.5:c.2112del (HADHA) MANE Select	NP_000173.2:p.Val705SerfsTer25