Canonical Allele Identifier: CA346127148

Gene: HADHA GAREM2

Linked Data

• MyVariant Identifiers: chr2:g.26424178T>G (hg19) ; chr2:g.26201309T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26201309T>G , CM000664.2:g.26201309T>G	GRCh38
NC_000002.11:g.26424178T>G , CM000664.1:g.26424178T>G	GRCh37
NC_000002.10:g.26277682T>G	NCBI36
NG_007121.1:g.48312A>C
NG_007121.2:g.48313A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1232A>C (HADHA) MANE Select	ENSP00000370023.3:p.Lys411Thr
ENST00000492433.2:c.1232A>C (HADHA)	ENSP00000438039.2:p.Lys411Thr
ENST00000643057.1:c.*1123A>C (HADHA)	ENSP00000493761.1:n.*1123A>C
ENST00000643063.1:c.*278A>C (HADHA)	ENSP00000495353.1:n.*278A>C
ENST00000643233.1:c.*1123A>C (HADHA)	ENSP00000493880.1:n.*1123A>C
ENST00000644428.1:c.1232A>C (HADHA)	ENSP00000495560.1:p.Lys411Thr
ENST00000645274.1:c.1127A>C (HADHA)	ENSP00000493996.1:p.Lys376Thr
ENST00000646031.1:c.591A>C (HADHA)
ENST00000646483.1:c.1098A>C (HADHA)	ENSP00000496185.1:n.1098A>C
ENST00000380649.7:c.1232A>C (HADHA)	ENSP00000370023.3:p.Lys411Thr
NM_000182.4:c.1232A>C (HADHA)	NP_000173.2:p.Lys411Thr
XM_011532567.1:c.1684-924T>G (GAREM2)	XP_011530869.1:n.1684-924T>G
XM_011532567.3:c.1684-924T>G (GAREM2)	XP_011530869.1:n.1684-924T>G
NM_000182.5:c.1232A>C (HADHA) MANE Select	NP_000173.2:p.Lys411Thr