Canonical Allele Identifier: CA1559335

Gene: HADHA GAREM2

Linked Data

• ClinVar Variation Id: 1538296
• ClinVar RCV Id: RCV002167187
• dbSNP Id: rs767103938
• ExAC: 2:26414270 T / TTC
• gnomAD v2: 2-26414270-T-TTC
• gnomAD v4: 2-26191401-T-TTC
• MyVariant Identifiers: chr2:g.26414270_26414271insTC (hg19) ; chr2:g.26191401_26191402insTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191401_26191402insTC , CM000664.2:g.26191401_26191402insTC	GRCh38
NC_000002.11:g.26414270_26414271insTC , CM000664.1:g.26414270_26414271insTC	GRCh37
NC_000002.10:g.26267774_26267775insTC	NCBI36
NG_007121.1:g.58219_58220insGA
NG_007121.2:g.58220_58221insGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.2147-7_2147-6insGA (HADHA) MANE Select	ENSP00000370023.3:n.2147-7_2147-6insGA
ENST00000492433.2:c.2227_2228insGA (HADHA)	ENSP00000438039.2:p.Tyr743Ter
ENST00000643057.1:c.*2118_*2119insGA (HADHA)	ENSP00000493761.1:n.*2118_*2119insGA
ENST00000643063.1:c.*1193-7_*1193-6insGA (HADHA)	ENSP00000495353.1:n.*1193-7_*1193-6insGA
ENST00000643233.1:c.*2038-7_*2038-6insGA (HADHA)	ENSP00000493880.1:n.*2038-7_*2038-6insGA
ENST00000644428.1:c.*771-7_*771-6insGA (HADHA)	ENSP00000495560.1:n.*771-7_*771-6insGA
ENST00000645274.1:c.2042-7_2042-6insGA (HADHA)	ENSP00000493996.1:n.2042-7_2042-6insGA
ENST00000646031.1:c.1506-7_1506-6insGA (HADHA)
ENST00000646483.1:c.2013-7_2013-6insGA (HADHA)	ENSP00000496185.1:n.2013-7_2013-6insGA
ENST00000380649.7:c.2147-7_2147-6insGA (HADHA)	ENSP00000370023.3:n.2147-7_2147-6insGA
ENST00000492433.1:c.685_686insGA (HADHA)	ENSP00000438039.1:p.Tyr229Ter
NM_000182.4:c.2147-7_2147-6insGA (HADHA)	NP_000173.2:n.2147-7_2147-6insGA
XM_011532567.1:c.1683+4086_1683+4087insTC (GAREM2)	XP_011530869.1:n.1683+4086_1683+4087insTC
XM_011532567.3:c.1683+4086_1683+4087insTC (GAREM2)	XP_011530869.1:n.1683+4086_1683+4087insTC
NM_000182.5:c.2147-7_2147-6insGA (HADHA) MANE Select	NP_000173.2:n.2147-7_2147-6insGA