Canonical Allele Identifier: CA346120602

Gene: HADHA GAREM2

Linked Data

• MyVariant Identifiers: chr2:g.26417990T>C (hg19) ; chr2:g.26195121T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26195121T>C , CM000664.2:g.26195121T>C	GRCh38
NC_000002.11:g.26417990T>C , CM000664.1:g.26417990T>C	GRCh37
NC_000002.10:g.26271494T>C	NCBI36
NG_007121.1:g.54500A>G
NG_007121.2:g.54501A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1591A>G (HADHA) MANE Select	ENSP00000370023.3:p.Lys531Glu
ENST00000492433.2:c.1591A>G (HADHA)	ENSP00000438039.2:p.Lys531Glu
ENST00000643057.1:c.*1482A>G (HADHA)	ENSP00000493761.1:n.*1482A>G
ENST00000643063.1:c.*637A>G (HADHA)	ENSP00000495353.1:n.*637A>G
ENST00000643233.1:c.*1482A>G (HADHA)	ENSP00000493880.1:n.*1482A>G
ENST00000644428.1:c.*215A>G (HADHA)	ENSP00000495560.1:n.*215A>G
ENST00000645274.1:c.1486A>G (HADHA)	ENSP00000493996.1:p.Lys496Glu
ENST00000646031.1:c.950A>G (HADHA)
ENST00000646483.1:c.1457A>G (HADHA)	ENSP00000496185.1:n.1457A>G
ENST00000380649.7:c.1591A>G (HADHA)	ENSP00000370023.3:p.Lys531Glu
ENST00000492433.1:c.49A>G (HADHA)	ENSP00000438039.1:p.Lys17Glu
NM_000182.4:c.1591A>G (HADHA)	NP_000173.2:p.Lys531Glu
XM_011532567.1:c.1684-7112T>C (GAREM2)	XP_011530869.1:n.1684-7112T>C
XM_011532567.3:c.1684-7112T>C (GAREM2)	XP_011530869.1:n.1684-7112T>C
NM_000182.5:c.1591A>G (HADHA) MANE Select	NP_000173.2:p.Lys531Glu