Canonical Allele Identifier: CA1559535

Gene: HADHA GAREM2

Linked Data

• ClinVar Variation Id: 1106341
• ClinVar RCV Id: RCV001431090
• dbSNP Id: rs755287314
• ExAC: 2:26418042 C / T
• gnomAD v2: 2-26418042-C-T
• gnomAD v3: 2-26195173-C-T
• gnomAD v4: 2-26195173-C-T
• MyVariant Identifiers: chr2:g.26418042C>T (hg19) ; chr2:g.26195173C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26195173C>T , CM000664.2:g.26195173C>T	GRCh38
NC_000002.11:g.26418042C>T , CM000664.1:g.26418042C>T	GRCh37
NC_000002.10:g.26271546C>T	NCBI36
NG_007121.1:g.54448G>A
NG_007121.2:g.54449G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1539G>A (HADHA) MANE Select	ENSP00000370023.3:p.Thr513=
ENST00000492433.2:c.1539G>A (HADHA)	ENSP00000438039.2:p.Thr513=
ENST00000643057.1:c.*1430G>A (HADHA)	ENSP00000493761.1:n.*1430G>A
ENST00000643063.1:c.*585G>A (HADHA)	ENSP00000495353.1:n.*585G>A
ENST00000643233.1:c.*1430G>A (HADHA)	ENSP00000493880.1:n.*1430G>A
ENST00000644428.1:c.*163G>A (HADHA)	ENSP00000495560.1:n.*163G>A
ENST00000645274.1:c.1434G>A (HADHA)	ENSP00000493996.1:p.Thr478=
ENST00000646031.1:c.898G>A (HADHA)
ENST00000646483.1:c.1405G>A (HADHA)	ENSP00000496185.1:n.1405G>A
ENST00000380649.7:c.1539G>A (HADHA)	ENSP00000370023.3:p.Thr513=
NM_000182.4:c.1539G>A (HADHA)	NP_000173.2:p.Thr513=
XM_011532567.1:c.1684-7060C>T (GAREM2)	XP_011530869.1:n.1684-7060C>T
XM_011532567.3:c.1684-7060C>T (GAREM2)	XP_011530869.1:n.1684-7060C>T
NM_000182.5:c.1539G>A (HADHA) MANE Select	NP_000173.2:p.Thr513=