Canonical Allele Identifier: CA346112411

Gene: HADHA GAREM2

Linked Data

• gnomAD v4: 2-26191483-C-T
• MyVariant Identifiers: chr2:g.26414352C>T (hg19) ; chr2:g.26191483C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191483C>T , CM000664.2:g.26191483C>T	GRCh38
NC_000002.11:g.26414352C>T , CM000664.1:g.26414352C>T	GRCh37
NC_000002.10:g.26267856C>T	NCBI36
NG_007121.1:g.58138G>A
NG_007121.2:g.58139G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000380649.8:c.2146G>A (HADHA) MANE Select	ENSP00000370023.3:p.Gly716Arg
ENST00000492433.2:c.2146G>A (HADHA)	ENSP00000438039.2:p.Gly716Ser
ENST00000643057.1:c.*2037G>A (HADHA)	ENSP00000493761.1:n.*2037G>A
ENST00000643063.1:c.*1192G>A (HADHA)	ENSP00000495353.1:n.*1192G>A
ENST00000643233.1:c.*2037G>A (HADHA)	ENSP00000493880.1:n.*2037G>A
ENST00000644428.1:c.*770G>A (HADHA)	ENSP00000495560.1:n.*770G>A
ENST00000645274.1:c.2041G>A (HADHA)	ENSP00000493996.1:p.Gly681Arg
ENST00000646031.1:c.1505G>A (HADHA)
ENST00000646483.1:c.2012G>A (HADHA)	ENSP00000496185.1:n.2012G>A
ENST00000380649.7:c.2146G>A (HADHA)	ENSP00000370023.3:p.Gly716Arg
ENST00000492433.1:c.604G>A (HADHA)	ENSP00000438039.1:p.Gly202Ser
NM_000182.4:c.2146G>A (HADHA)	NP_000173.2:p.Gly716Arg
XM_011532567.1:c.1683+4168C>T (GAREM2)	XP_011530869.1:n.1683+4168C>T
XM_011532567.3:c.1683+4168C>T (GAREM2)	XP_011530869.1:n.1683+4168C>T
NM_000182.5:c.2146G>A (HADHA) MANE Select	NP_000173.2:p.Gly716Arg