Canonical Allele Identifier: CA425357803

Gene: HADHA GAREM2

Linked Data

• MyVariant Identifiers: chr2:g.26414149A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191280A>C , CM000664.2:g.26191280A>C	GRCh38
NC_000002.11:g.26414149A>C , CM000664.1:g.26414149A>C	GRCh37
NC_000002.10:g.26267653A>C	NCBI36
NG_007121.1:g.58341T>G
NG_007121.2:g.58342T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.2262T>G (HADHA) MANE Select	ENSP00000370023.3:p.Ala754=
ENST00000492433.2:c.2349T>G (HADHA)	ENSP00000438039.2:p.Ala783=
ENST00000643057.1:c.*2240T>G (HADHA)	ENSP00000493761.1:n.*2240T>G
ENST00000643063.1:c.*1308T>G (HADHA)	ENSP00000495353.1:n.*1308T>G
ENST00000643233.1:c.*2153T>G (HADHA)	ENSP00000493880.1:n.*2153T>G
ENST00000644428.1:c.*886T>G (HADHA)	ENSP00000495560.1:n.*886T>G
ENST00000645274.1:c.2157T>G (HADHA)	ENSP00000493996.1:p.Ala719=
ENST00000646031.1:c.1621T>G (HADHA)
ENST00000646483.1:c.2128T>G (HADHA)	ENSP00000496185.1:n.2128T>G
ENST00000380649.7:c.2262T>G (HADHA)	ENSP00000370023.3:p.Ala754=
NM_000182.4:c.2262T>G (HADHA)	NP_000173.2:p.Ala754=
XM_011532567.1:c.1683+3965A>C (GAREM2)	XP_011530869.1:n.1683+3965A>C
XM_011532567.3:c.1683+3965A>C (GAREM2)	XP_011530869.1:n.1683+3965A>C
NM_000182.5:c.2262T>G (HADHA) MANE Select	NP_000173.2:p.Ala754=