Canonical Allele Identifier: CA44376782

Gene: HADHA GAREM2

Linked Data

• ClinVar Variation Id: 429439
• ClinVar RCV Id: RCV000493353 ; RCV000667879 ; RCV003223409 ; RCV001865540
• dbSNP Id: rs200438844
• gnomAD v2: 2-26414391-C-T
• gnomAD v3: 2-26191522-C-T
• gnomAD v4: 2-26191522-C-T
• MyVariant Identifiers: chr2:g.26414391C>T (hg19) ; chr2:g.26191522C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191522C>T , CM000664.2:g.26191522C>T	GRCh38
NC_000002.11:g.26414391C>T , CM000664.1:g.26414391C>T	GRCh37
NC_000002.10:g.26267895C>T	NCBI36
NG_007121.1:g.58099G>A
NG_007121.2:g.58100G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.2107G>A (HADHA) MANE Select	ENSP00000370023.3:p.Gly703Arg
ENST00000492433.2:c.2107G>A (HADHA)	ENSP00000438039.2:p.Gly703Arg
ENST00000643057.1:c.*1998G>A (HADHA)	ENSP00000493761.1:n.*1998G>A
ENST00000643063.1:c.*1153G>A (HADHA)	ENSP00000495353.1:n.*1153G>A
ENST00000643233.1:c.*1998G>A (HADHA)	ENSP00000493880.1:n.*1998G>A
ENST00000644428.1:c.*731G>A (HADHA)	ENSP00000495560.1:n.*731G>A
ENST00000645274.1:c.2002G>A (HADHA)	ENSP00000493996.1:p.Gly668Arg
ENST00000646031.1:c.1466G>A (HADHA)
ENST00000646483.1:c.1973G>A (HADHA)	ENSP00000496185.1:n.1973G>A
ENST00000380649.7:c.2107G>A (HADHA)	ENSP00000370023.3:p.Gly703Arg
ENST00000492433.1:c.565G>A (HADHA)	ENSP00000438039.1:p.Gly189Arg
NM_000182.4:c.2107G>A (HADHA)	NP_000173.2:p.Gly703Arg
XM_011532567.1:c.1683+4207C>T (GAREM2)	XP_011530869.1:n.1683+4207C>T
XM_011532567.3:c.1683+4207C>T (GAREM2)	XP_011530869.1:n.1683+4207C>T
NM_000182.5:c.2107G>A (HADHA) MANE Select	NP_000173.2:p.Gly703Arg