Canonical Allele Identifier: CA425357792

Gene: HADHA GAREM2

Linked Data

• COSMIC: COSM5058830
• MyVariant Identifiers: chr2:g.26414140A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191271A>G , CM000664.2:g.26191271A>G	GRCh38
NC_000002.11:g.26414140A>G , CM000664.1:g.26414140A>G	GRCh37
NC_000002.10:g.26267644A>G	NCBI36
NG_007121.1:g.58350T>C
NG_007121.2:g.58351T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.2271T>C (HADHA) MANE Select	ENSP00000370023.3:p.Pro757=
ENST00000492433.2:c.2358T>C (HADHA)	ENSP00000438039.2:p.Pro786=
ENST00000643057.1:c.*2249T>C (HADHA)	ENSP00000493761.1:n.*2249T>C
ENST00000643063.1:c.*1317T>C (HADHA)	ENSP00000495353.1:n.*1317T>C
ENST00000643233.1:c.*2162T>C (HADHA)	ENSP00000493880.1:n.*2162T>C
ENST00000644428.1:c.*895T>C (HADHA)	ENSP00000495560.1:n.*895T>C
ENST00000645274.1:c.2166T>C (HADHA)	ENSP00000493996.1:p.Pro722=
ENST00000646031.1:c.1630T>C (HADHA)
ENST00000646483.1:c.2137T>C (HADHA)	ENSP00000496185.1:n.2137T>C
ENST00000380649.7:c.2271T>C (HADHA)	ENSP00000370023.3:p.Pro757=
NM_000182.4:c.2271T>C (HADHA)	NP_000173.2:p.Pro757=
XM_011532567.1:c.1683+3956A>G (GAREM2)	XP_011530869.1:n.1683+3956A>G
XM_011532567.3:c.1683+3956A>G (GAREM2)	XP_011530869.1:n.1683+3956A>G
NM_000182.5:c.2271T>C (HADHA) MANE Select	NP_000173.2:p.Pro757=