Canonical Allele Identifier: CA1559457

Gene: HADHA GAREM2

Linked Data

• ClinVar Variation Id: 847236
• ClinVar RCV Id: RCV001050739 ; RCV001827319
• dbSNP Id: rs368455378
• ExAC: 2:26416542 T / C
• gnomAD v2: 2-26416542-T-C
• gnomAD v3: 2-26193673-T-C
• gnomAD v4: 2-26193673-T-C
• MyVariant Identifiers: chr2:g.26416542T>C (hg19) ; chr2:g.26193673T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26193673T>C , CM000664.2:g.26193673T>C	GRCh38
NC_000002.11:g.26416542T>C , CM000664.1:g.26416542T>C	GRCh37
NC_000002.10:g.26270046T>C	NCBI36
NG_007121.1:g.55948A>G
NG_007121.2:g.55949A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000380649.8:c.1789A>G (HADHA) MANE Select	ENSP00000370023.3:p.Lys597Glu
ENST00000492433.2:c.1789A>G (HADHA)	ENSP00000438039.2:p.Lys597Glu
ENST00000643057.1:c.*1680A>G (HADHA)	ENSP00000493761.1:n.*1680A>G
ENST00000643063.1:c.*835A>G (HADHA)	ENSP00000495353.1:n.*835A>G
ENST00000643233.1:c.*1680A>G (HADHA)	ENSP00000493880.1:n.*1680A>G
ENST00000644428.1:c.*413A>G (HADHA)	ENSP00000495560.1:n.*413A>G
ENST00000645274.1:c.1684A>G (HADHA)	ENSP00000493996.1:p.Lys562Glu
ENST00000646031.1:c.1148A>G (HADHA)
ENST00000646483.1:c.1655A>G (HADHA)	ENSP00000496185.1:n.1655A>G
ENST00000380649.7:c.1789A>G (HADHA)	ENSP00000370023.3:p.Lys597Glu
ENST00000492433.1:c.247A>G (HADHA)	ENSP00000438039.1:p.Lys83Glu
NM_000182.4:c.1789A>G (HADHA)	NP_000173.2:p.Lys597Glu
XM_011532567.1:c.1683+6358T>C (GAREM2)	XP_011530869.1:n.1683+6358T>C
XM_011532567.3:c.1683+6358T>C (GAREM2)	XP_011530869.1:n.1683+6358T>C
NM_000182.5:c.1789A>G (HADHA) MANE Select	NP_000173.2:p.Lys597Glu