Canonical Allele Identifier: CA425358002

Gene: HADHA GAREM2

Linked Data

• dbSNP Id: rs1669502198
• gnomAD v4: 2-26191505-A-G
• MyVariant Identifiers: chr2:g.26414374A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191505A>G , CM000664.2:g.26191505A>G	GRCh38
NC_000002.11:g.26414374A>G , CM000664.1:g.26414374A>G	GRCh37
NC_000002.10:g.26267878A>G	NCBI36
NG_007121.1:g.58116T>C
NG_007121.2:g.58117T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.2124T>C (HADHA) MANE Select	ENSP00000370023.3:p.Leu708=
ENST00000492433.2:c.2124T>C (HADHA)	ENSP00000438039.2:p.Leu708=
ENST00000643057.1:c.*2015T>C (HADHA)	ENSP00000493761.1:n.*2015T>C
ENST00000643063.1:c.*1170T>C (HADHA)	ENSP00000495353.1:n.*1170T>C
ENST00000643233.1:c.*2015T>C (HADHA)	ENSP00000493880.1:n.*2015T>C
ENST00000644428.1:c.*748T>C (HADHA)	ENSP00000495560.1:n.*748T>C
ENST00000645274.1:c.2019T>C (HADHA)	ENSP00000493996.1:p.Leu673=
ENST00000646031.1:c.1483T>C (HADHA)
ENST00000646483.1:c.1990T>C (HADHA)	ENSP00000496185.1:n.1990T>C
ENST00000380649.7:c.2124T>C (HADHA)	ENSP00000370023.3:p.Leu708=
ENST00000492433.1:c.582T>C (HADHA)	ENSP00000438039.1:p.Leu194=
NM_000182.4:c.2124T>C (HADHA)	NP_000173.2:p.Leu708=
XM_011532567.1:c.1683+4190A>G (GAREM2)	XP_011530869.1:n.1683+4190A>G
XM_011532567.3:c.1683+4190A>G (GAREM2)	XP_011530869.1:n.1683+4190A>G
NM_000182.5:c.2124T>C (HADHA) MANE Select	NP_000173.2:p.Leu708=