Canonical Allele Identifier: CA425357805
Gene: HADHA HGNC NCBI
GAREM2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1152432
ClinVar RCV Id: RCV001493741
dbSNP Id: rs1669489360
MyVariant Identifiers: chr2:g.26414152A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26191283A>G , CM000664.2:g.26191283A>G GRCh38
NC_000002.11:g.26414152A>G , CM000664.1:g.26414152A>G GRCh37
NC_000002.10:g.26267656A>G NCBI36
NG_007121.1:g.58338T>C
NG_007121.2:g.58339T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000380649.8:c.2259T>C (HADHA) MANE Select ENSP00000370023.3:p.His753=
ENST00000492433.2:c.2346T>C (HADHA) ENSP00000438039.2:p.His782=
ENST00000643057.1:c.*2237T>C (HADHA) ENSP00000493761.1:n.*2237T>C
ENST00000643063.1:c.*1305T>C (HADHA) ENSP00000495353.1:n.*1305T>C
ENST00000643233.1:c.*2150T>C (HADHA) ENSP00000493880.1:n.*2150T>C
ENST00000644428.1:c.*883T>C (HADHA) ENSP00000495560.1:n.*883T>C
ENST00000645274.1:c.2154T>C (HADHA) ENSP00000493996.1:p.His718=
ENST00000646031.1:c.1618T>C (HADHA)
ENST00000646483.1:c.2125T>C (HADHA) ENSP00000496185.1:n.2125T>C
ENST00000380649.7:c.2259T>C (HADHA) ENSP00000370023.3:p.His753=
NM_000182.4:c.2259T>C (HADHA) NP_000173.2:p.His753=
XM_011532567.1:c.1683+3968A>G (GAREM2) XP_011530869.1:n.1683+3968A>G
XM_011532567.3:c.1683+3968A>G (GAREM2) XP_011530869.1:n.1683+3968A>G
NM_000182.5:c.2259T>C (HADHA) MANE Select NP_000173.2:p.His753=