Canonical Allele Identifier: CA346112478

Gene: HADHA GAREM2

Linked Data

• MyVariant Identifiers: chr2:g.26414357A>C (hg19) ; chr2:g.26191488A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191488A>C , CM000664.2:g.26191488A>C	GRCh38
NC_000002.11:g.26414357A>C , CM000664.1:g.26414357A>C	GRCh37
NC_000002.10:g.26267861A>C	NCBI36
NG_007121.1:g.58133T>G
NG_007121.2:g.58134T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.2141T>G (HADHA) MANE Select	ENSP00000370023.3:p.Leu714Arg
ENST00000492433.2:c.2141T>G (HADHA)	ENSP00000438039.2:p.Leu714Arg
ENST00000643057.1:c.*2032T>G (HADHA)	ENSP00000493761.1:n.*2032T>G
ENST00000643063.1:c.*1187T>G (HADHA)	ENSP00000495353.1:n.*1187T>G
ENST00000643233.1:c.*2032T>G (HADHA)	ENSP00000493880.1:n.*2032T>G
ENST00000644428.1:c.*765T>G (HADHA)	ENSP00000495560.1:n.*765T>G
ENST00000645274.1:c.2036T>G (HADHA)	ENSP00000493996.1:p.Leu679Arg
ENST00000646031.1:c.1500T>G (HADHA)
ENST00000646483.1:c.2007T>G (HADHA)	ENSP00000496185.1:n.2007T>G
ENST00000380649.7:c.2141T>G (HADHA)	ENSP00000370023.3:p.Leu714Arg
ENST00000492433.1:c.599T>G (HADHA)	ENSP00000438039.1:p.Leu200Arg
NM_000182.4:c.2141T>G (HADHA)	NP_000173.2:p.Leu714Arg
XM_011532567.1:c.1683+4173A>C (GAREM2)	XP_011530869.1:n.1683+4173A>C
XM_011532567.3:c.1683+4173A>C (GAREM2)	XP_011530869.1:n.1683+4173A>C
NM_000182.5:c.2141T>G (HADHA) MANE Select	NP_000173.2:p.Leu714Arg