Canonical Allele Identifier: CA346111448

Gene: HADHA GAREM2

Linked Data

• MyVariant Identifiers: chr2:g.26414165A>T (hg19) ; chr2:g.26191296A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191296A>T , CM000664.2:g.26191296A>T	GRCh38
NC_000002.11:g.26414165A>T , CM000664.1:g.26414165A>T	GRCh37
NC_000002.10:g.26267669A>T	NCBI36
NG_007121.1:g.58325T>A
NG_007121.2:g.58326T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.2246T>A (HADHA) MANE Select	ENSP00000370023.3:p.Leu749Gln
ENST00000492433.2:c.2333T>A (HADHA)	ENSP00000438039.2:p.Leu778Gln
ENST00000643057.1:c.*2224T>A (HADHA)	ENSP00000493761.1:n.*2224T>A
ENST00000643063.1:c.*1292T>A (HADHA)	ENSP00000495353.1:n.*1292T>A
ENST00000643233.1:c.*2137T>A (HADHA)	ENSP00000493880.1:n.*2137T>A
ENST00000644428.1:c.*870T>A (HADHA)	ENSP00000495560.1:n.*870T>A
ENST00000645274.1:c.2141T>A (HADHA)	ENSP00000493996.1:p.Leu714Gln
ENST00000646031.1:c.1605T>A (HADHA)
ENST00000646483.1:c.2112T>A (HADHA)	ENSP00000496185.1:n.2112T>A
ENST00000380649.7:c.2246T>A (HADHA)	ENSP00000370023.3:p.Leu749Gln
NM_000182.4:c.2246T>A (HADHA)	NP_000173.2:p.Leu749Gln
XM_011532567.1:c.1683+3981A>T (GAREM2)	XP_011530869.1:n.1683+3981A>T
XM_011532567.3:c.1683+3981A>T (GAREM2)	XP_011530869.1:n.1683+3981A>T
NM_000182.5:c.2246T>A (HADHA) MANE Select	NP_000173.2:p.Leu749Gln