Canonical Allele Identifier: CA425201171

Gene: HADHA GAREM2

Linked Data

• MyVariant Identifiers: chr2:g.26424159T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26201290T>G , CM000664.2:g.26201290T>G	GRCh38
NC_000002.11:g.26424159T>G , CM000664.1:g.26424159T>G	GRCh37
NC_000002.10:g.26277663T>G	NCBI36
NG_007121.1:g.48331A>C
NG_007121.2:g.48332A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1251A>C (HADHA) MANE Select	ENSP00000370023.3:p.Leu417=
ENST00000492433.2:c.1251A>C (HADHA)	ENSP00000438039.2:p.Leu417=
ENST00000643057.1:c.*1142A>C (HADHA)	ENSP00000493761.1:n.*1142A>C
ENST00000643063.1:c.*297A>C (HADHA)	ENSP00000495353.1:n.*297A>C
ENST00000643233.1:c.*1142A>C (HADHA)	ENSP00000493880.1:n.*1142A>C
ENST00000644428.1:c.1251A>C (HADHA)	ENSP00000495560.1:p.Leu417=
ENST00000645274.1:c.1146A>C (HADHA)	ENSP00000493996.1:p.Leu382=
ENST00000646031.1:c.610A>C (HADHA)
ENST00000646483.1:c.1117A>C (HADHA)	ENSP00000496185.1:n.1117A>C
ENST00000380649.7:c.1251A>C (HADHA)	ENSP00000370023.3:p.Leu417=
NM_000182.4:c.1251A>C (HADHA)	NP_000173.2:p.Leu417=
XM_011532567.1:c.1684-943T>G (GAREM2)	XP_011530869.1:n.1684-943T>G
XM_011532567.3:c.1684-943T>G (GAREM2)	XP_011530869.1:n.1684-943T>G
NM_000182.5:c.1251A>C (HADHA) MANE Select	NP_000173.2:p.Leu417=