Canonical Allele Identifier: CA346112926

Gene: HADHA GAREM2

Linked Data

• MyVariant Identifiers: chr2:g.26414414G>T (hg19) ; chr2:g.26191545G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191545G>T , CM000664.2:g.26191545G>T	GRCh38
NC_000002.11:g.26414414G>T , CM000664.1:g.26414414G>T	GRCh37
NC_000002.10:g.26267918G>T	NCBI36
NG_007121.1:g.58076C>A
NG_007121.2:g.58077C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.2084C>A (HADHA) MANE Select	ENSP00000370023.3:p.Ala695Asp
ENST00000492433.2:c.2084C>A (HADHA)	ENSP00000438039.2:p.Ala695Asp
ENST00000643057.1:c.*1975C>A (HADHA)	ENSP00000493761.1:n.*1975C>A
ENST00000643063.1:c.*1130C>A (HADHA)	ENSP00000495353.1:n.*1130C>A
ENST00000643233.1:c.*1975C>A (HADHA)	ENSP00000493880.1:n.*1975C>A
ENST00000644428.1:c.*708C>A (HADHA)	ENSP00000495560.1:n.*708C>A
ENST00000645274.1:c.1979C>A (HADHA)	ENSP00000493996.1:p.Ala660Asp
ENST00000646031.1:c.1443C>A (HADHA)
ENST00000646483.1:c.1950C>A (HADHA)	ENSP00000496185.1:n.1950C>A
ENST00000380649.7:c.2084C>A (HADHA)	ENSP00000370023.3:p.Ala695Asp
ENST00000492433.1:c.542C>A (HADHA)	ENSP00000438039.1:p.Ala181Asp
NM_000182.4:c.2084C>A (HADHA)	NP_000173.2:p.Ala695Asp
XM_011532567.1:c.1683+4230G>T (GAREM2)	XP_011530869.1:n.1683+4230G>T
XM_011532567.3:c.1683+4230G>T (GAREM2)	XP_011530869.1:n.1683+4230G>T
NM_000182.5:c.2084C>A (HADHA) MANE Select	NP_000173.2:p.Ala695Asp