Canonical Allele Identifier: CA346115369

Gene: HADHA GAREM2

Linked Data

• MyVariant Identifiers: chr2:g.26415272A>T (hg19) ; chr2:g.26192403A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26192403A>T , CM000664.2:g.26192403A>T	GRCh38
NC_000002.11:g.26415272A>T , CM000664.1:g.26415272A>T	GRCh37
NC_000002.10:g.26268776A>T	NCBI36
NG_007121.1:g.57218T>A
NG_007121.2:g.57219T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000380649.8:c.1907T>A (HADHA) MANE Select	ENSP00000370023.3:p.Phe636Tyr
ENST00000492433.2:c.1907T>A (HADHA)	ENSP00000438039.2:p.Phe636Tyr
ENST00000643057.1:c.*1798T>A (HADHA)	ENSP00000493761.1:n.*1798T>A
ENST00000643063.1:c.*953T>A (HADHA)	ENSP00000495353.1:n.*953T>A
ENST00000643233.1:c.*1798T>A (HADHA)	ENSP00000493880.1:n.*1798T>A
ENST00000644428.1:c.*531T>A (HADHA)	ENSP00000495560.1:n.*531T>A
ENST00000645274.1:c.1802T>A (HADHA)	ENSP00000493996.1:p.Phe601Tyr
ENST00000646031.1:c.1266T>A (HADHA)
ENST00000646483.1:c.1773T>A (HADHA)	ENSP00000496185.1:n.1773T>A
ENST00000380649.7:c.1907T>A (HADHA)	ENSP00000370023.3:p.Phe636Tyr
ENST00000492433.1:c.365T>A (HADHA)	ENSP00000438039.1:p.Phe122Tyr
NM_000182.4:c.1907T>A (HADHA)	NP_000173.2:p.Phe636Tyr
XM_011532567.1:c.1683+5088A>T (GAREM2)	XP_011530869.1:n.1683+5088A>T
XM_011532567.3:c.1683+5088A>T (GAREM2)	XP_011530869.1:n.1683+5088A>T
NM_000182.5:c.1907T>A (HADHA) MANE Select	NP_000173.2:p.Phe636Tyr