Canonical Allele Identifier: CA346121728

Gene: HADHA GAREM2

Linked Data

• ClinVar Variation Id: 984355
• ClinVar RCV Id: RCV001264365
• dbSNP Id: rs1669632177
• MyVariant Identifiers: chr2:g.26418068T>A (hg19) ; chr2:g.26195199T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26195199T>A , CM000664.2:g.26195199T>A	GRCh38
NC_000002.11:g.26418068T>A , CM000664.1:g.26418068T>A	GRCh37
NC_000002.10:g.26271572T>A	NCBI36
NG_007121.1:g.54422A>T
NG_007121.2:g.54423A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1513A>T (HADHA) MANE Select	ENSP00000370023.3:p.Lys505Ter
ENST00000492433.2:c.1513A>T (HADHA)	ENSP00000438039.2:p.Lys505Ter
ENST00000643057.1:c.*1404A>T (HADHA)	ENSP00000493761.1:n.*1404A>T
ENST00000643063.1:c.*559A>T (HADHA)	ENSP00000495353.1:n.*559A>T
ENST00000643233.1:c.*1404A>T (HADHA)	ENSP00000493880.1:n.*1404A>T
ENST00000644428.1:c.*137A>T (HADHA)	ENSP00000495560.1:n.*137A>T
ENST00000645274.1:c.1408A>T (HADHA)	ENSP00000493996.1:p.Lys470Ter
ENST00000646031.1:c.872A>T (HADHA)
ENST00000646483.1:c.1379A>T (HADHA)	ENSP00000496185.1:n.1379A>T
ENST00000380649.7:c.1513A>T (HADHA)	ENSP00000370023.3:p.Lys505Ter
NM_000182.4:c.1513A>T (HADHA)	NP_000173.2:p.Lys505Ter
XM_011532567.1:c.1684-7034T>A (GAREM2)	XP_011530869.1:n.1684-7034T>A
XM_011532567.3:c.1684-7034T>A (GAREM2)	XP_011530869.1:n.1684-7034T>A
NM_000182.5:c.1513A>T (HADHA) MANE Select	NP_000173.2:p.Lys505Ter