Canonical Allele Identifier: CA346112788

Gene: HADHA GAREM2

Linked Data

• ClinVar Variation Id: 557112
• ClinVar RCV Id: RCV000673205
• dbSNP Id: rs1553311698
• MyVariant Identifiers: chr2:g.26414396T>C (hg19) ; chr2:g.26191527T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191527T>C , CM000664.2:g.26191527T>C	GRCh38
NC_000002.11:g.26414396T>C , CM000664.1:g.26414396T>C	GRCh37
NC_000002.10:g.26267900T>C	NCBI36
NG_007121.1:g.58094A>G
NG_007121.2:g.58095A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.2102A>G (HADHA) MANE Select	ENSP00000370023.3:p.Asp701Gly
ENST00000492433.2:c.2102A>G (HADHA)	ENSP00000438039.2:p.Asp701Gly
ENST00000643057.1:c.*1993A>G (HADHA)	ENSP00000493761.1:n.*1993A>G
ENST00000643063.1:c.*1148A>G (HADHA)	ENSP00000495353.1:n.*1148A>G
ENST00000643233.1:c.*1993A>G (HADHA)	ENSP00000493880.1:n.*1993A>G
ENST00000644428.1:c.*726A>G (HADHA)	ENSP00000495560.1:n.*726A>G
ENST00000645274.1:c.1997A>G (HADHA)	ENSP00000493996.1:p.Asp666Gly
ENST00000646031.1:c.1461A>G (HADHA)
ENST00000646483.1:c.1968A>G (HADHA)	ENSP00000496185.1:n.1968A>G
ENST00000380649.7:c.2102A>G (HADHA)	ENSP00000370023.3:p.Asp701Gly
ENST00000492433.1:c.560A>G (HADHA)	ENSP00000438039.1:p.Asp187Gly
NM_000182.4:c.2102A>G (HADHA)	NP_000173.2:p.Asp701Gly
XM_011532567.1:c.1683+4212T>C (GAREM2)	XP_011530869.1:n.1683+4212T>C
XM_011532567.3:c.1683+4212T>C (GAREM2)	XP_011530869.1:n.1683+4212T>C
NM_000182.5:c.2102A>G (HADHA) MANE Select	NP_000173.2:p.Asp701Gly