Canonical Allele Identifier: CA425200641

Gene: HADHA GAREM2

Linked Data

• ClinVar Variation Id: 1615900
• ClinVar RCV Id: RCV002074778
• dbSNP Id: rs2147753595
• MyVariant Identifiers: chr2:g.26417997A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26195128A>G , CM000664.2:g.26195128A>G	GRCh38
NC_000002.11:g.26417997A>G , CM000664.1:g.26417997A>G	GRCh37
NC_000002.10:g.26271501A>G	NCBI36
NG_007121.1:g.54493T>C
NG_007121.2:g.54494T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1584T>C (HADHA) MANE Select	ENSP00000370023.3:p.Val528=
ENST00000492433.2:c.1584T>C (HADHA)	ENSP00000438039.2:p.Val528=
ENST00000643057.1:c.*1475T>C (HADHA)	ENSP00000493761.1:n.*1475T>C
ENST00000643063.1:c.*630T>C (HADHA)	ENSP00000495353.1:n.*630T>C
ENST00000643233.1:c.*1475T>C (HADHA)	ENSP00000493880.1:n.*1475T>C
ENST00000644428.1:c.*208T>C (HADHA)	ENSP00000495560.1:n.*208T>C
ENST00000645274.1:c.1479T>C (HADHA)	ENSP00000493996.1:p.Val493=
ENST00000646031.1:c.943T>C (HADHA)
ENST00000646483.1:c.1450T>C (HADHA)	ENSP00000496185.1:n.1450T>C
ENST00000380649.7:c.1584T>C (HADHA)	ENSP00000370023.3:p.Val528=
ENST00000492433.1:c.42T>C (HADHA)	ENSP00000438039.1:p.Val14=
NM_000182.4:c.1584T>C (HADHA)	NP_000173.2:p.Val528=
XM_011532567.1:c.1684-7105A>G (GAREM2)	XP_011530869.1:n.1684-7105A>G
XM_011532567.3:c.1684-7105A>G (GAREM2)	XP_011530869.1:n.1684-7105A>G
NM_000182.5:c.1584T>C (HADHA) MANE Select	NP_000173.2:p.Val528=