Canonical Allele Identifier: CA425357883

Gene: HADHA GAREM2

Linked Data

• ClinVar Variation Id: 2950838
• ClinVar RCV Id: RCV003802100
• MyVariant Identifiers: chr2:g.26414217G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191348G>T , CM000664.2:g.26191348G>T	GRCh38
NC_000002.11:g.26414217G>T , CM000664.1:g.26414217G>T	GRCh37
NC_000002.10:g.26267721G>T	NCBI36
NG_007121.1:g.58273C>A
NG_007121.2:g.58274C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.2194C>A (HADHA) MANE Select	ENSP00000370023.3:p.Arg732=
ENST00000492433.2:c.2281C>A (HADHA)	ENSP00000438039.2:p.Arg761=
ENST00000643057.1:c.*2172C>A (HADHA)	ENSP00000493761.1:n.*2172C>A
ENST00000643063.1:c.*1240C>A (HADHA)	ENSP00000495353.1:n.*1240C>A
ENST00000643233.1:c.*2085C>A (HADHA)	ENSP00000493880.1:n.*2085C>A
ENST00000644428.1:c.*818C>A (HADHA)	ENSP00000495560.1:n.*818C>A
ENST00000645274.1:c.2089C>A (HADHA)	ENSP00000493996.1:p.Arg697=
ENST00000646031.1:c.1553C>A (HADHA)
ENST00000646483.1:c.2060C>A (HADHA)	ENSP00000496185.1:n.2060C>A
ENST00000380649.7:c.2194C>A (HADHA)	ENSP00000370023.3:p.Arg732=
ENST00000492433.1:c.739C>A (HADHA)	ENSP00000438039.1:p.Arg247=
NM_000182.4:c.2194C>A (HADHA)	NP_000173.2:p.Arg732=
XM_011532567.1:c.1683+4033G>T (GAREM2)	XP_011530869.1:n.1683+4033G>T
XM_011532567.3:c.1683+4033G>T (GAREM2)	XP_011530869.1:n.1683+4033G>T
NM_000182.5:c.2194C>A (HADHA) MANE Select	NP_000173.2:p.Arg732=