Canonical Allele Identifier: CA425357822

Gene: HADHA GAREM2

Linked Data

• MyVariant Identifiers: chr2:g.26414163G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191294G>A , CM000664.2:g.26191294G>A	GRCh38
NC_000002.11:g.26414163G>A , CM000664.1:g.26414163G>A	GRCh37
NC_000002.10:g.26267667G>A	NCBI36
NG_007121.1:g.58327C>T
NG_007121.2:g.58328C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.2248C>T (HADHA) MANE Select	ENSP00000370023.3:p.Leu750=
ENST00000492433.2:c.2335C>T (HADHA)	ENSP00000438039.2:p.Leu779=
ENST00000643057.1:c.*2226C>T (HADHA)	ENSP00000493761.1:n.*2226C>T
ENST00000643063.1:c.*1294C>T (HADHA)	ENSP00000495353.1:n.*1294C>T
ENST00000643233.1:c.*2139C>T (HADHA)	ENSP00000493880.1:n.*2139C>T
ENST00000644428.1:c.*872C>T (HADHA)	ENSP00000495560.1:n.*872C>T
ENST00000645274.1:c.2143C>T (HADHA)	ENSP00000493996.1:p.Leu715=
ENST00000646031.1:c.1607C>T (HADHA)
ENST00000646483.1:c.2114C>T (HADHA)	ENSP00000496185.1:n.2114C>T
ENST00000380649.7:c.2248C>T (HADHA)	ENSP00000370023.3:p.Leu750=
NM_000182.4:c.2248C>T (HADHA)	NP_000173.2:p.Leu750=
XM_011532567.1:c.1683+3979G>A (GAREM2)	XP_011530869.1:n.1683+3979G>A
XM_011532567.3:c.1683+3979G>A (GAREM2)	XP_011530869.1:n.1683+3979G>A
NM_000182.5:c.2248C>T (HADHA) MANE Select	NP_000173.2:p.Leu750=