Canonical Allele Identifier: CA1559417

Gene: HADHA GAREM2

Linked Data

• ClinVar Variation Id: 1125620
• ClinVar RCV Id: RCV001457403
• dbSNP Id: rs754472544
• ExAC: 2:26415256 C / T
• gnomAD v2: 2-26415256-C-T
• gnomAD v3: 2-26192387-C-T
• gnomAD v4: 2-26192387-C-T
• MyVariant Identifiers: chr2:g.26415256C>T (hg19) ; chr2:g.26192387C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26192387C>T , CM000664.2:g.26192387C>T	GRCh38
NC_000002.11:g.26415256C>T , CM000664.1:g.26415256C>T	GRCh37
NC_000002.10:g.26268760C>T	NCBI36
NG_007121.1:g.57234G>A
NG_007121.2:g.57235G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1923G>A (HADHA) MANE Select	ENSP00000370023.3:p.Glu641=
ENST00000492433.2:c.1923G>A (HADHA)	ENSP00000438039.2:p.Glu641=
ENST00000643057.1:c.*1814G>A (HADHA)	ENSP00000493761.1:n.*1814G>A
ENST00000643063.1:c.*969G>A (HADHA)	ENSP00000495353.1:n.*969G>A
ENST00000643233.1:c.*1814G>A (HADHA)	ENSP00000493880.1:n.*1814G>A
ENST00000644428.1:c.*547G>A (HADHA)	ENSP00000495560.1:n.*547G>A
ENST00000645274.1:c.1818G>A (HADHA)	ENSP00000493996.1:p.Glu606=
ENST00000646031.1:c.1282G>A (HADHA)
ENST00000646483.1:c.1789G>A (HADHA)	ENSP00000496185.1:n.1789G>A
ENST00000380649.7:c.1923G>A (HADHA)	ENSP00000370023.3:p.Glu641=
ENST00000492433.1:c.381G>A (HADHA)	ENSP00000438039.1:p.Glu127=
NM_000182.4:c.1923G>A (HADHA)	NP_000173.2:p.Glu641=
XM_011532567.1:c.1683+5072C>T (GAREM2)	XP_011530869.1:n.1683+5072C>T
XM_011532567.3:c.1683+5072C>T (GAREM2)	XP_011530869.1:n.1683+5072C>T
NM_000182.5:c.1923G>A (HADHA) MANE Select	NP_000173.2:p.Glu641=