Canonical Allele Identifier: CA346111353

Gene: HADHA GAREM2

Linked Data

• MyVariant Identifiers: chr2:g.26414136T>A (hg19) ; chr2:g.26191267T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191267T>A , CM000664.2:g.26191267T>A	GRCh38
NC_000002.11:g.26414136T>A , CM000664.1:g.26414136T>A	GRCh37
NC_000002.10:g.26267640T>A	NCBI36
NG_007121.1:g.58354A>T
NG_007121.2:g.58355A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.2275A>T (HADHA) MANE Select	ENSP00000370023.3:p.Lys759Ter
ENST00000492433.2:c.2362A>T (HADHA)	ENSP00000438039.2:p.Lys788Ter
ENST00000643057.1:c.*2253A>T (HADHA)	ENSP00000493761.1:n.*2253A>T
ENST00000643063.1:c.*1321A>T (HADHA)	ENSP00000495353.1:n.*1321A>T
ENST00000643233.1:c.*2166A>T (HADHA)	ENSP00000493880.1:n.*2166A>T
ENST00000644428.1:c.*899A>T (HADHA)	ENSP00000495560.1:n.*899A>T
ENST00000645274.1:c.2170A>T (HADHA)	ENSP00000493996.1:p.Lys724Ter
ENST00000646031.1:c.1634A>T (HADHA)
ENST00000646483.1:c.2141A>T (HADHA)	ENSP00000496185.1:n.2141A>T
ENST00000380649.7:c.2275A>T (HADHA)	ENSP00000370023.3:p.Lys759Ter
NM_000182.4:c.2275A>T (HADHA)	NP_000173.2:p.Lys759Ter
XM_011532567.1:c.1683+3952T>A (GAREM2)	XP_011530869.1:n.1683+3952T>A
XM_011532567.3:c.1683+3952T>A (GAREM2)	XP_011530869.1:n.1683+3952T>A
NM_000182.5:c.2275A>T (HADHA) MANE Select	NP_000173.2:p.Lys759Ter