Canonical Allele Identifier: CA346111406

Gene: HADHA GAREM2

Linked Data

• MyVariant Identifiers: chr2:g.26414150G>A (hg19) ; chr2:g.26191281G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191281G>A , CM000664.2:g.26191281G>A	GRCh38
NC_000002.11:g.26414150G>A , CM000664.1:g.26414150G>A	GRCh37
NC_000002.10:g.26267654G>A	NCBI36
NG_007121.1:g.58340C>T
NG_007121.2:g.58341C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.2261C>T (HADHA) MANE Select	ENSP00000370023.3:p.Ala754Val
ENST00000492433.2:c.2348C>T (HADHA)	ENSP00000438039.2:p.Ala783Val
ENST00000643057.1:c.*2239C>T (HADHA)	ENSP00000493761.1:n.*2239C>T
ENST00000643063.1:c.*1307C>T (HADHA)	ENSP00000495353.1:n.*1307C>T
ENST00000643233.1:c.*2152C>T (HADHA)	ENSP00000493880.1:n.*2152C>T
ENST00000644428.1:c.*885C>T (HADHA)	ENSP00000495560.1:n.*885C>T
ENST00000645274.1:c.2156C>T (HADHA)	ENSP00000493996.1:p.Ala719Val
ENST00000646031.1:c.1620C>T (HADHA)
ENST00000646483.1:c.2127C>T (HADHA)	ENSP00000496185.1:n.2127C>T
ENST00000380649.7:c.2261C>T (HADHA)	ENSP00000370023.3:p.Ala754Val
NM_000182.4:c.2261C>T (HADHA)	NP_000173.2:p.Ala754Val
XM_011532567.1:c.1683+3966G>A (GAREM2)	XP_011530869.1:n.1683+3966G>A
XM_011532567.3:c.1683+3966G>A (GAREM2)	XP_011530869.1:n.1683+3966G>A
NM_000182.5:c.2261C>T (HADHA) MANE Select	NP_000173.2:p.Ala754Val