Canonical Allele Identifier: CA346126615

Gene: HADHA GAREM2

Linked Data

• ClinVar Variation Id: 3104133
• ClinVar RCV Id: RCV004399009
• dbSNP Id: rs1386454824
• gnomAD v2: 2-26424077-T-A
• gnomAD v4: 2-26201208-T-A
• MyVariant Identifiers: chr2:g.26424077T>A (hg19) ; chr2:g.26201208T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26201208T>A , CM000664.2:g.26201208T>A	GRCh38
NC_000002.11:g.26424077T>A , CM000664.1:g.26424077T>A	GRCh37
NC_000002.10:g.26277581T>A	NCBI36
NG_007121.1:g.48413A>T
NG_007121.2:g.48414A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1333A>T (HADHA) MANE Select	ENSP00000370023.3:p.Ile445Phe
ENST00000492433.2:c.1333A>T (HADHA)	ENSP00000438039.2:p.Ile445Phe
ENST00000643057.1:c.*1224A>T (HADHA)	ENSP00000493761.1:n.*1224A>T
ENST00000643063.1:c.*379A>T (HADHA)	ENSP00000495353.1:n.*379A>T
ENST00000643233.1:c.*1224A>T (HADHA)	ENSP00000493880.1:n.*1224A>T
ENST00000644428.1:c.1333A>T (HADHA)	ENSP00000495560.1:p.Ile445Phe
ENST00000645274.1:c.1228A>T (HADHA)	ENSP00000493996.1:p.Ile410Phe
ENST00000646031.1:c.692A>T (HADHA)
ENST00000646483.1:c.1199A>T (HADHA)	ENSP00000496185.1:n.1199A>T
ENST00000380649.7:c.1333A>T (HADHA)	ENSP00000370023.3:p.Ile445Phe
NM_000182.4:c.1333A>T (HADHA)	NP_000173.2:p.Ile445Phe
XM_011532567.1:c.1684-1025T>A (GAREM2)	XP_011530869.1:n.1684-1025T>A
XM_011532567.3:c.1684-1025T>A (GAREM2)	XP_011530869.1:n.1684-1025T>A
NM_000182.5:c.1333A>T (HADHA) MANE Select	NP_000173.2:p.Ile445Phe