Canonical Allele Identifier: CA425201077

Gene: HADHA GAREM2

Linked Data

• MyVariant Identifiers: chr2:g.26424033T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26201164T>A , CM000664.2:g.26201164T>A	GRCh38
NC_000002.11:g.26424033T>A , CM000664.1:g.26424033T>A	GRCh37
NC_000002.10:g.26277537T>A	NCBI36
NG_007121.1:g.48457A>T
NG_007121.2:g.48458A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1377A>T (HADHA) MANE Select	ENSP00000370023.3:p.Leu459=
ENST00000492433.2:c.1377A>T (HADHA)	ENSP00000438039.2:p.Leu459=
ENST00000643057.1:c.*1268A>T (HADHA)	ENSP00000493761.1:n.*1268A>T
ENST00000643063.1:c.*423A>T (HADHA)	ENSP00000495353.1:n.*423A>T
ENST00000643233.1:c.*1268A>T (HADHA)	ENSP00000493880.1:n.*1268A>T
ENST00000644428.1:c.1377A>T (HADHA)	ENSP00000495560.1:p.Leu459=
ENST00000645274.1:c.1272A>T (HADHA)	ENSP00000493996.1:p.Leu424=
ENST00000646031.1:c.736A>T (HADHA)
ENST00000646483.1:c.1243A>T (HADHA)	ENSP00000496185.1:n.1243A>T
ENST00000380649.7:c.1377A>T (HADHA)	ENSP00000370023.3:p.Leu459=
NM_000182.4:c.1377A>T (HADHA)	NP_000173.2:p.Leu459=
XM_011532567.1:c.1684-1069T>A (GAREM2)	XP_011530869.1:n.1684-1069T>A
XM_011532567.3:c.1684-1069T>A (GAREM2)	XP_011530869.1:n.1684-1069T>A
NM_000182.5:c.1377A>T (HADHA) MANE Select	NP_000173.2:p.Leu459=