Canonical Allele Identifier: CA425357991

Gene: HADHA GAREM2

Linked Data

• dbSNP Id: rs1315188332
• gnomAD v2: 2-26414362-A-T
• gnomAD v4: 2-26191493-A-T
• MyVariant Identifiers: chr2:g.26414362A>T (hg19) ; chr2:g.26191493A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191493A>T , CM000664.2:g.26191493A>T	GRCh38
NC_000002.11:g.26414362A>T , CM000664.1:g.26414362A>T	GRCh37
NC_000002.10:g.26267866A>T	NCBI36
NG_007121.1:g.58128T>A
NG_007121.2:g.58129T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000380649.8:c.2136T>A (HADHA) MANE Select	ENSP00000370023.3:p.Pro712=
ENST00000492433.2:c.2136T>A (HADHA)	ENSP00000438039.2:p.Pro712=
ENST00000643057.1:c.*2027T>A (HADHA)	ENSP00000493761.1:n.*2027T>A
ENST00000643063.1:c.*1182T>A (HADHA)	ENSP00000495353.1:n.*1182T>A
ENST00000643233.1:c.*2027T>A (HADHA)	ENSP00000493880.1:n.*2027T>A
ENST00000644428.1:c.*760T>A (HADHA)	ENSP00000495560.1:n.*760T>A
ENST00000645274.1:c.2031T>A (HADHA)	ENSP00000493996.1:p.Pro677=
ENST00000646031.1:c.1495T>A (HADHA)
ENST00000646483.1:c.2002T>A (HADHA)	ENSP00000496185.1:n.2002T>A
ENST00000380649.7:c.2136T>A (HADHA)	ENSP00000370023.3:p.Pro712=
ENST00000492433.1:c.594T>A (HADHA)	ENSP00000438039.1:p.Pro198=
NM_000182.4:c.2136T>A (HADHA)	NP_000173.2:p.Pro712=
XM_011532567.1:c.1683+4178A>T (GAREM2)	XP_011530869.1:n.1683+4178A>T
XM_011532567.3:c.1683+4178A>T (GAREM2)	XP_011530869.1:n.1683+4178A>T
NM_000182.5:c.2136T>A (HADHA) MANE Select	NP_000173.2:p.Pro712=