Canonical Allele Identifier: CA346111302

Gene: HADHA GAREM2

Linked Data

• dbSNP Id: rs895816831
• gnomAD v3: 2-26191255-G-T
• gnomAD v4: 2-26191255-G-T
• MyVariant Identifiers: chr2:g.26414124G>T (hg19) ; chr2:g.26191255G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191255G>T , CM000664.2:g.26191255G>T	GRCh38
NC_000002.11:g.26414124G>T , CM000664.1:g.26414124G>T	GRCh37
NC_000002.10:g.26267628G>T	NCBI36
NG_007121.1:g.58366C>A
NG_007121.2:g.58367C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.2287C>A (HADHA) MANE Select	ENSP00000370023.3:p.Gln763Lys
ENST00000492433.2:c.2374C>A (HADHA)	ENSP00000438039.2:p.Gln792Lys
ENST00000643057.1:c.*2265C>A (HADHA)	ENSP00000493761.1:n.*2265C>A
ENST00000643063.1:c.*1333C>A (HADHA)	ENSP00000495353.1:n.*1333C>A
ENST00000643233.1:c.*2178C>A (HADHA)	ENSP00000493880.1:n.*2178C>A
ENST00000644428.1:c.*911C>A (HADHA)	ENSP00000495560.1:n.*911C>A
ENST00000645274.1:c.2182C>A (HADHA)	ENSP00000493996.1:p.Gln728Lys
ENST00000646031.1:c.1646C>A (HADHA)
ENST00000646483.1:c.2153C>A (HADHA)	ENSP00000496185.1:n.2153C>A
ENST00000380649.7:c.2287C>A (HADHA)	ENSP00000370023.3:p.Gln763Lys
NM_000182.4:c.2287C>A (HADHA)	NP_000173.2:p.Gln763Lys
XM_011532567.1:c.1683+3940G>T (GAREM2)	XP_011530869.1:n.1683+3940G>T
XM_011532567.3:c.1683+3940G>T (GAREM2)	XP_011530869.1:n.1683+3940G>T
NM_000182.5:c.2287C>A (HADHA) MANE Select	NP_000173.2:p.Gln763Lys