Canonical Allele Identifier: CA346111339

Gene: HADHA GAREM2

Linked Data

• gnomAD v4: 2-26191263-T-C
• MyVariant Identifiers: chr2:g.26414132T>C (hg19) ; chr2:g.26191263T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191263T>C , CM000664.2:g.26191263T>C	GRCh38
NC_000002.11:g.26414132T>C , CM000664.1:g.26414132T>C	GRCh37
NC_000002.10:g.26267636T>C	NCBI36
NG_007121.1:g.58358A>G
NG_007121.2:g.58359A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.2279A>G (HADHA) MANE Select	ENSP00000370023.3:p.Lys760Arg
ENST00000492433.2:c.2366A>G (HADHA)	ENSP00000438039.2:p.Lys789Arg
ENST00000643057.1:c.*2257A>G (HADHA)	ENSP00000493761.1:n.*2257A>G
ENST00000643063.1:c.*1325A>G (HADHA)	ENSP00000495353.1:n.*1325A>G
ENST00000643233.1:c.*2170A>G (HADHA)	ENSP00000493880.1:n.*2170A>G
ENST00000644428.1:c.*903A>G (HADHA)	ENSP00000495560.1:n.*903A>G
ENST00000645274.1:c.2174A>G (HADHA)	ENSP00000493996.1:p.Lys725Arg
ENST00000646031.1:c.1638A>G (HADHA)
ENST00000646483.1:c.2145A>G (HADHA)	ENSP00000496185.1:n.2145A>G
ENST00000380649.7:c.2279A>G (HADHA)	ENSP00000370023.3:p.Lys760Arg
NM_000182.4:c.2279A>G (HADHA)	NP_000173.2:p.Lys760Arg
XM_011532567.1:c.1683+3948T>C (GAREM2)	XP_011530869.1:n.1683+3948T>C
XM_011532567.3:c.1683+3948T>C (GAREM2)	XP_011530869.1:n.1683+3948T>C
NM_000182.5:c.2279A>G (HADHA) MANE Select	NP_000173.2:p.Lys760Arg