Canonical Allele Identifier: CA767262211

Gene: HADHA GAREM2

Linked Data

• dbSNP Id: rs1436388101
• gnomAD v4: 2-26191152-T-TC
• MyVariant Identifiers: chr2:g.26414021_26414022insC (hg19) ; chr2:g.26191152_26191153insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191153dup , CM000664.2:g.26191153dup	GRCh38
NC_000002.11:g.26414022dup , CM000664.1:g.26414022dup	GRCh37
NC_000002.10:g.26267526dup	NCBI36
NG_007121.1:g.58468dup
NG_007121.2:g.58469dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.*97dup (HADHA) MANE Select	ENSP00000370023.3:n.*97dup
ENST00000492433.2:c.*97dup (HADHA)	ENSP00000438039.2:n.*97dup
ENST00000643057.1:c.*2367dup (HADHA)	ENSP00000493761.1:n.*2367dup
ENST00000643063.1:c.*1435dup (HADHA)	ENSP00000495353.1:n.*1435dup
ENST00000643233.1:c.*2280dup (HADHA)	ENSP00000493880.1:n.*2280dup
ENST00000644428.1:c.*1013dup (HADHA)	ENSP00000495560.1:n.*1013dup
ENST00000645274.1:c.*97dup (HADHA)	ENSP00000493996.1:n.*97dup
ENST00000646031.1:c.1748dup (HADHA)
ENST00000380649.7:c.*97dup (HADHA)	ENSP00000370023.3:n.*97dup
NM_000182.4:c.*97dup (HADHA)	NP_000173.2:n.*97dup
XM_011532567.1:c.1683+3838dup (GAREM2)	XP_011530869.1:n.1683+3838dup
XM_011532567.3:c.1683+3838dup (GAREM2)	XP_011530869.1:n.1683+3838dup
NM_000182.5:c.*97dup (HADHA) MANE Select	NP_000173.2:n.*97dup