Canonical Allele Identifier: CA346111458

Gene: HADHA GAREM2

Linked Data

• MyVariant Identifiers: chr2:g.26414167C>G (hg19) ; chr2:g.26191298C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191298C>G , CM000664.2:g.26191298C>G	GRCh38
NC_000002.11:g.26414167C>G , CM000664.1:g.26414167C>G	GRCh37
NC_000002.10:g.26267671C>G	NCBI36
NG_007121.1:g.58323G>C
NG_007121.2:g.58324G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.2244G>C (HADHA) MANE Select	ENSP00000370023.3:p.Gln748His
ENST00000492433.2:c.2331G>C (HADHA)	ENSP00000438039.2:p.Gln777His
ENST00000643057.1:c.*2222G>C (HADHA)	ENSP00000493761.1:n.*2222G>C
ENST00000643063.1:c.*1290G>C (HADHA)	ENSP00000495353.1:n.*1290G>C
ENST00000643233.1:c.*2135G>C (HADHA)	ENSP00000493880.1:n.*2135G>C
ENST00000644428.1:c.*868G>C (HADHA)	ENSP00000495560.1:n.*868G>C
ENST00000645274.1:c.2139G>C (HADHA)	ENSP00000493996.1:p.Gln713His
ENST00000646031.1:c.1603G>C (HADHA)
ENST00000646483.1:c.2110G>C (HADHA)	ENSP00000496185.1:n.2110G>C
ENST00000380649.7:c.2244G>C (HADHA)	ENSP00000370023.3:p.Gln748His
NM_000182.4:c.2244G>C (HADHA)	NP_000173.2:p.Gln748His
XM_011532567.1:c.1683+3983C>G (GAREM2)	XP_011530869.1:n.1683+3983C>G
XM_011532567.3:c.1683+3983C>G (GAREM2)	XP_011530869.1:n.1683+3983C>G
NM_000182.5:c.2244G>C (HADHA) MANE Select	NP_000173.2:p.Gln748His