Canonical Allele Identifier: CA44376297

Gene: HADHA GAREM2

Linked Data

• dbSNP Id: rs1802579
• gnomAD v4: 2-26191252-A-G
• MyVariant Identifiers: chr2:g.26414121A>G (hg19) ; chr2:g.26191252A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191252A>G , CM000664.2:g.26191252A>G	GRCh38
NC_000002.11:g.26414121A>G , CM000664.1:g.26414121A>G	GRCh37
NC_000002.10:g.26267625A>G	NCBI36
NG_007121.1:g.58369T>C
NG_007121.2:g.58370T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.2290T>C (HADHA) MANE Select	ENSP00000370023.3:p.Ter764Arg
ENST00000492433.2:c.2377T>C (HADHA)	ENSP00000438039.2:p.Ter793Arg
ENST00000643057.1:c.*2268T>C (HADHA)	ENSP00000493761.1:n.*2268T>C
ENST00000643063.1:c.*1336T>C (HADHA)	ENSP00000495353.1:n.*1336T>C
ENST00000643233.1:c.*2181T>C (HADHA)	ENSP00000493880.1:n.*2181T>C
ENST00000644428.1:c.*914T>C (HADHA)	ENSP00000495560.1:n.*914T>C
ENST00000645274.1:c.2185T>C (HADHA)	ENSP00000493996.1:p.Ter729Arg
ENST00000646031.1:c.1649T>C (HADHA)
ENST00000646483.1:c.2156T>C (HADHA)	ENSP00000496185.1:n.2156T>C
ENST00000380649.7:c.2290T>C (HADHA)	ENSP00000370023.3:p.Ter764Arg
NM_000182.4:c.2290T>C (HADHA)	NP_000173.2:p.Ter764Arg
XM_011532567.1:c.1683+3937A>G (GAREM2)	XP_011530869.1:n.1683+3937A>G
XM_011532567.3:c.1683+3937A>G (GAREM2)	XP_011530869.1:n.1683+3937A>G
NM_000182.5:c.2290T>C (HADHA) MANE Select	NP_000173.2:p.Ter764Arg