Canonical Allele Identifier: CA346117840

Gene: HADHA GAREM2

Linked Data

• MyVariant Identifiers: chr2:g.26416525A>T (hg19) ; chr2:g.26193656A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26193656A>T , CM000664.2:g.26193656A>T	GRCh38
NC_000002.11:g.26416525A>T , CM000664.1:g.26416525A>T	GRCh37
NC_000002.10:g.26270029A>T	NCBI36
NG_007121.1:g.55965T>A
NG_007121.2:g.55966T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1806T>A (HADHA) MANE Select	ENSP00000370023.3:p.Asp602Glu
ENST00000492433.2:c.1806T>A (HADHA)	ENSP00000438039.2:p.Asp602Glu
ENST00000643057.1:c.*1697T>A (HADHA)	ENSP00000493761.1:n.*1697T>A
ENST00000643063.1:c.*852T>A (HADHA)	ENSP00000495353.1:n.*852T>A
ENST00000643233.1:c.*1697T>A (HADHA)	ENSP00000493880.1:n.*1697T>A
ENST00000644428.1:c.*430T>A (HADHA)	ENSP00000495560.1:n.*430T>A
ENST00000645274.1:c.1701T>A (HADHA)	ENSP00000493996.1:p.Asp567Glu
ENST00000646031.1:c.1165T>A (HADHA)
ENST00000646483.1:c.1672T>A (HADHA)	ENSP00000496185.1:n.1672T>A
ENST00000380649.7:c.1806T>A (HADHA)	ENSP00000370023.3:p.Asp602Glu
ENST00000492433.1:c.264T>A (HADHA)	ENSP00000438039.1:p.Asp88Glu
NM_000182.4:c.1806T>A (HADHA)	NP_000173.2:p.Asp602Glu
XM_011532567.1:c.1683+6341A>T (GAREM2)	XP_011530869.1:n.1683+6341A>T
XM_011532567.3:c.1683+6341A>T (GAREM2)	XP_011530869.1:n.1683+6341A>T
NM_000182.5:c.1806T>A (HADHA) MANE Select	NP_000173.2:p.Asp602Glu