Canonical Allele Identifier: CA346111289

Gene: HADHA GAREM2

Linked Data

• dbSNP Id: rs779065171
• gnomAD v4: 2-26191253-C-G
• MyVariant Identifiers: chr2:g.26414122C>G (hg19) ; chr2:g.26191253C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191253C>G , CM000664.2:g.26191253C>G	GRCh38
NC_000002.11:g.26414122C>G , CM000664.1:g.26414122C>G	GRCh37
NC_000002.10:g.26267626C>G	NCBI36
NG_007121.1:g.58368G>C
NG_007121.2:g.58369G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.2289G>C (HADHA) MANE Select	ENSP00000370023.3:p.Gln763His
ENST00000492433.2:c.2376G>C (HADHA)	ENSP00000438039.2:p.Gln792His
ENST00000643057.1:c.*2267G>C (HADHA)	ENSP00000493761.1:n.*2267G>C
ENST00000643063.1:c.*1335G>C (HADHA)	ENSP00000495353.1:n.*1335G>C
ENST00000643233.1:c.*2180G>C (HADHA)	ENSP00000493880.1:n.*2180G>C
ENST00000644428.1:c.*913G>C (HADHA)	ENSP00000495560.1:n.*913G>C
ENST00000645274.1:c.2184G>C (HADHA)	ENSP00000493996.1:p.Gln728His
ENST00000646031.1:c.1648G>C (HADHA)
ENST00000646483.1:c.2155G>C (HADHA)	ENSP00000496185.1:n.2155G>C
ENST00000380649.7:c.2289G>C (HADHA)	ENSP00000370023.3:p.Gln763His
NM_000182.4:c.2289G>C (HADHA)	NP_000173.2:p.Gln763His
XM_011532567.1:c.1683+3938C>G (GAREM2)	XP_011530869.1:n.1683+3938C>G
XM_011532567.3:c.1683+3938C>G (GAREM2)	XP_011530869.1:n.1683+3938C>G
NM_000182.5:c.2289G>C (HADHA) MANE Select	NP_000173.2:p.Gln763His