Canonical Allele Identifier: CA425200299

Gene: HADHA GAREM2

Linked Data

• MyVariant Identifiers: chr2:g.26416519G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26193650G>T , CM000664.2:g.26193650G>T	GRCh38
NC_000002.11:g.26416519G>T , CM000664.1:g.26416519G>T	GRCh37
NC_000002.10:g.26270023G>T	NCBI36
NG_007121.1:g.55971C>A
NG_007121.2:g.55972C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1812C>A (HADHA) MANE Select	ENSP00000370023.3:p.Gly604=
ENST00000492433.2:c.1812C>A (HADHA)	ENSP00000438039.2:p.Gly604=
ENST00000643057.1:c.*1703C>A (HADHA)	ENSP00000493761.1:n.*1703C>A
ENST00000643063.1:c.*858C>A (HADHA)	ENSP00000495353.1:n.*858C>A
ENST00000643233.1:c.*1703C>A (HADHA)	ENSP00000493880.1:n.*1703C>A
ENST00000644428.1:c.*436C>A (HADHA)	ENSP00000495560.1:n.*436C>A
ENST00000645274.1:c.1707C>A (HADHA)	ENSP00000493996.1:p.Gly569=
ENST00000646031.1:c.1171C>A (HADHA)
ENST00000646483.1:c.1678C>A (HADHA)	ENSP00000496185.1:n.1678C>A
ENST00000380649.7:c.1812C>A (HADHA)	ENSP00000370023.3:p.Gly604=
ENST00000492433.1:c.270C>A (HADHA)	ENSP00000438039.1:p.Gly90=
NM_000182.4:c.1812C>A (HADHA)	NP_000173.2:p.Gly604=
XM_011532567.1:c.1683+6335G>T (GAREM2)	XP_011530869.1:n.1683+6335G>T
XM_011532567.3:c.1683+6335G>T (GAREM2)	XP_011530869.1:n.1683+6335G>T
NM_000182.5:c.1812C>A (HADHA) MANE Select	NP_000173.2:p.Gly604=