Canonical Allele Identifier: CA913090335

Gene: HADHA GAREM2

Linked Data

• MyVariant Identifiers: chr2:g.26414134dup (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191265dup , CM000664.2:g.26191265dup	GRCh38
NC_000002.11:g.26414134dup , CM000664.1:g.26414134dup	GRCh37
NC_000002.10:g.26267638dup	NCBI36
NG_007121.1:g.58356dup
NG_007121.2:g.58357dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.2277dup (HADHA) MANE Select	ENSP00000370023.3:p.Lys760GlufsTer?
ENST00000492433.2:c.2364dup (HADHA)	ENSP00000438039.2:p.Lys789GlufsTer?
ENST00000643057.1:c.*2255dup (HADHA)	ENSP00000493761.1:n.*2255dup
ENST00000643063.1:c.*1323dup (HADHA)	ENSP00000495353.1:n.*1323dup
ENST00000643233.1:c.*2168dup (HADHA)	ENSP00000493880.1:n.*2168dup
ENST00000644428.1:c.*901dup (HADHA)	ENSP00000495560.1:n.*901dup
ENST00000645274.1:c.2172dup (HADHA)	ENSP00000493996.1:p.Lys725GlufsTer?
ENST00000646031.1:c.1636dup (HADHA)
ENST00000646483.1:c.2143dup (HADHA)	ENSP00000496185.1:n.2143dup
ENST00000380649.7:c.2277dup (HADHA)	ENSP00000370023.3:p.Lys760GlufsTer?
NM_000182.4:c.2277dup (HADHA)	NP_000173.2:p.Lys760GlufsTer?
XM_011532567.1:c.1683+3950dup (GAREM2)	XP_011530869.1:n.1683+3950dup
XM_011532567.3:c.1683+3950dup (GAREM2)	XP_011530869.1:n.1683+3950dup
NM_000182.5:c.2277dup (HADHA) MANE Select	NP_000173.2:p.Lys760GlufsTer?