Canonical Allele Identifier: CA346111380

Gene: HADHA GAREM2

Linked Data

• MyVariant Identifiers: chr2:g.26414143G>T (hg19) ; chr2:g.26191274G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191274G>T , CM000664.2:g.26191274G>T	GRCh38
NC_000002.11:g.26414143G>T , CM000664.1:g.26414143G>T	GRCh37
NC_000002.10:g.26267647G>T	NCBI36
NG_007121.1:g.58347C>A
NG_007121.2:g.58348C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.2268C>A (HADHA) MANE Select	ENSP00000370023.3:p.Ser756Arg
ENST00000492433.2:c.2355C>A (HADHA)	ENSP00000438039.2:p.Ser785Arg
ENST00000643057.1:c.*2246C>A (HADHA)	ENSP00000493761.1:n.*2246C>A
ENST00000643063.1:c.*1314C>A (HADHA)	ENSP00000495353.1:n.*1314C>A
ENST00000643233.1:c.*2159C>A (HADHA)	ENSP00000493880.1:n.*2159C>A
ENST00000644428.1:c.*892C>A (HADHA)	ENSP00000495560.1:n.*892C>A
ENST00000645274.1:c.2163C>A (HADHA)	ENSP00000493996.1:p.Ser721Arg
ENST00000646031.1:c.1627C>A (HADHA)
ENST00000646483.1:c.2134C>A (HADHA)	ENSP00000496185.1:n.2134C>A
ENST00000380649.7:c.2268C>A (HADHA)	ENSP00000370023.3:p.Ser756Arg
NM_000182.4:c.2268C>A (HADHA)	NP_000173.2:p.Ser756Arg
XM_011532567.1:c.1683+3959G>T (GAREM2)	XP_011530869.1:n.1683+3959G>T
XM_011532567.3:c.1683+3959G>T (GAREM2)	XP_011530869.1:n.1683+3959G>T
NM_000182.5:c.2268C>A (HADHA) MANE Select	NP_000173.2:p.Ser756Arg