Canonical Allele Identifier: CA425200619

Gene: HADHA GAREM2

Linked Data

• ClinVar Variation Id: 2105715
• ClinVar RCV Id: RCV003023595
• MyVariant Identifiers: chr2:g.26417967C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26195098C>A , CM000664.2:g.26195098C>A	GRCh38
NC_000002.11:g.26417967C>A , CM000664.1:g.26417967C>A	GRCh37
NC_000002.10:g.26271471C>A	NCBI36
NG_007121.1:g.54523G>T
NG_007121.2:g.54524G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1614G>T (HADHA) MANE Select	ENSP00000370023.3:p.Val538=
ENST00000492433.2:c.1614G>T (HADHA)	ENSP00000438039.2:p.Val538=
ENST00000643057.1:c.*1505G>T (HADHA)	ENSP00000493761.1:n.*1505G>T
ENST00000643063.1:c.*660G>T (HADHA)	ENSP00000495353.1:n.*660G>T
ENST00000643233.1:c.*1505G>T (HADHA)	ENSP00000493880.1:n.*1505G>T
ENST00000644428.1:c.*238G>T (HADHA)	ENSP00000495560.1:n.*238G>T
ENST00000645274.1:c.1509G>T (HADHA)	ENSP00000493996.1:p.Val503=
ENST00000646031.1:c.973G>T (HADHA)
ENST00000646483.1:c.1480G>T (HADHA)	ENSP00000496185.1:n.1480G>T
ENST00000380649.7:c.1614G>T (HADHA)	ENSP00000370023.3:p.Val538=
ENST00000492433.1:c.72G>T (HADHA)	ENSP00000438039.1:p.Val24=
NM_000182.4:c.1614G>T (HADHA)	NP_000173.2:p.Val538=
XM_011532567.1:c.1684-7135C>A (GAREM2)	XP_011530869.1:n.1684-7135C>A
XM_011532567.3:c.1684-7135C>A (GAREM2)	XP_011530869.1:n.1684-7135C>A
NM_000182.5:c.1614G>T (HADHA) MANE Select	NP_000173.2:p.Val538=