Canonical Allele Identifier: CA346114239

Gene: HADHA GAREM2

Linked Data

• MyVariant Identifiers: chr2:g.26415182T>A (hg19) ; chr2:g.26192313T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26192313T>A , CM000664.2:g.26192313T>A	GRCh38
NC_000002.11:g.26415182T>A , CM000664.1:g.26415182T>A	GRCh37
NC_000002.10:g.26268686T>A	NCBI36
NG_007121.1:g.57308A>T
NG_007121.2:g.57309A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000380649.8:c.1997A>T (HADHA) MANE Select	ENSP00000370023.3:p.Glu666Val
ENST00000492433.2:c.1997A>T (HADHA)	ENSP00000438039.2:p.Glu666Val
ENST00000643057.1:c.*1888A>T (HADHA)	ENSP00000493761.1:n.*1888A>T
ENST00000643063.1:c.*1043A>T (HADHA)	ENSP00000495353.1:n.*1043A>T
ENST00000643233.1:c.*1888A>T (HADHA)	ENSP00000493880.1:n.*1888A>T
ENST00000644428.1:c.*621A>T (HADHA)	ENSP00000495560.1:n.*621A>T
ENST00000645274.1:c.1892A>T (HADHA)	ENSP00000493996.1:p.Glu631Val
ENST00000646031.1:c.1356A>T (HADHA)
ENST00000646483.1:c.1863A>T (HADHA)	ENSP00000496185.1:n.1863A>T
ENST00000380649.7:c.1997A>T (HADHA)	ENSP00000370023.3:p.Glu666Val
ENST00000492433.1:c.455A>T (HADHA)	ENSP00000438039.1:p.Glu152Val
NM_000182.4:c.1997A>T (HADHA)	NP_000173.2:p.Glu666Val
XM_011532567.1:c.1683+4998T>A (GAREM2)	XP_011530869.1:n.1683+4998T>A
XM_011532567.3:c.1683+4998T>A (GAREM2)	XP_011530869.1:n.1683+4998T>A
NM_000182.5:c.1997A>T (HADHA) MANE Select	NP_000173.2:p.Glu666Val