Canonical Allele Identifier: CA346126581

Gene: HADHA GAREM2

Linked Data

• MyVariant Identifiers: chr2:g.26424073T>A (hg19) ; chr2:g.26201204T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26201204T>A , CM000664.2:g.26201204T>A	GRCh38
NC_000002.11:g.26424073T>A , CM000664.1:g.26424073T>A	GRCh37
NC_000002.10:g.26277577T>A	NCBI36
NG_007121.1:g.48417A>T
NG_007121.2:g.48418A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1337A>T (HADHA) MANE Select	ENSP00000370023.3:p.Glu446Val
ENST00000492433.2:c.1337A>T (HADHA)	ENSP00000438039.2:p.Glu446Val
ENST00000643057.1:c.*1228A>T (HADHA)	ENSP00000493761.1:n.*1228A>T
ENST00000643063.1:c.*383A>T (HADHA)	ENSP00000495353.1:n.*383A>T
ENST00000643233.1:c.*1228A>T (HADHA)	ENSP00000493880.1:n.*1228A>T
ENST00000644428.1:c.1337A>T (HADHA)	ENSP00000495560.1:p.Glu446Val
ENST00000645274.1:c.1232A>T (HADHA)	ENSP00000493996.1:p.Glu411Val
ENST00000646031.1:c.696A>T (HADHA)
ENST00000646483.1:c.1203A>T (HADHA)	ENSP00000496185.1:n.1203A>T
ENST00000380649.7:c.1337A>T (HADHA)	ENSP00000370023.3:p.Glu446Val
NM_000182.4:c.1337A>T (HADHA)	NP_000173.2:p.Glu446Val
XM_011532567.1:c.1684-1029T>A (GAREM2)	XP_011530869.1:n.1684-1029T>A
XM_011532567.3:c.1684-1029T>A (GAREM2)	XP_011530869.1:n.1684-1029T>A
NM_000182.5:c.1337A>T (HADHA) MANE Select	NP_000173.2:p.Glu446Val