Canonical Allele Identifier: CA346113149

Gene: HADHA GAREM2

Linked Data

• MyVariant Identifiers: chr2:g.26414436A>C (hg19) ; chr2:g.26191567A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191567A>C , CM000664.2:g.26191567A>C	GRCh38
NC_000002.11:g.26414436A>C , CM000664.1:g.26414436A>C	GRCh37
NC_000002.10:g.26267940A>C	NCBI36
NG_007121.1:g.58054T>G
NG_007121.2:g.58055T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.2062T>G (HADHA) MANE Select	ENSP00000370023.3:p.Cys688Gly
ENST00000492433.2:c.2062T>G (HADHA)	ENSP00000438039.2:p.Cys688Gly
ENST00000643057.1:c.*1953T>G (HADHA)	ENSP00000493761.1:n.*1953T>G
ENST00000643063.1:c.*1108T>G (HADHA)	ENSP00000495353.1:n.*1108T>G
ENST00000643233.1:c.*1953T>G (HADHA)	ENSP00000493880.1:n.*1953T>G
ENST00000644428.1:c.*686T>G (HADHA)	ENSP00000495560.1:n.*686T>G
ENST00000645274.1:c.1957T>G (HADHA)	ENSP00000493996.1:p.Cys653Gly
ENST00000646031.1:c.1421T>G (HADHA)
ENST00000646483.1:c.1928T>G (HADHA)	ENSP00000496185.1:n.1928T>G
ENST00000380649.7:c.2062T>G (HADHA)	ENSP00000370023.3:p.Cys688Gly
ENST00000492433.1:c.520T>G (HADHA)	ENSP00000438039.1:p.Cys174Gly
NM_000182.4:c.2062T>G (HADHA)	NP_000173.2:p.Cys688Gly
XM_011532567.1:c.1683+4252A>C (GAREM2)	XP_011530869.1:n.1683+4252A>C
XM_011532567.3:c.1683+4252A>C (GAREM2)	XP_011530869.1:n.1683+4252A>C
NM_000182.5:c.2062T>G (HADHA) MANE Select	NP_000173.2:p.Cys688Gly