Canonical Allele Identifier: CA767262195

Gene: HADHA GAREM2

Linked Data

• dbSNP Id: rs1270034471
• MyVariant Identifiers: chr2:g.26413998A>G (hg19) ; chr2:g.26191129A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191129A>G , CM000664.2:g.26191129A>G	GRCh38
NC_000002.11:g.26413998A>G , CM000664.1:g.26413998A>G	GRCh37
NC_000002.10:g.26267502A>G	NCBI36
NG_007121.1:g.58492T>C
NG_007121.2:g.58493T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.*121T>C (HADHA) MANE Select	ENSP00000370023.3:n.*121T>C
ENST00000492433.2:c.*121T>C (HADHA)	ENSP00000438039.2:n.*121T>C
ENST00000643057.1:c.*2391T>C (HADHA)	ENSP00000493761.1:n.*2391T>C
ENST00000643063.1:c.*1459T>C (HADHA)	ENSP00000495353.1:n.*1459T>C
ENST00000643233.1:c.*2304T>C (HADHA)	ENSP00000493880.1:n.*2304T>C
ENST00000644428.1:c.*1037T>C (HADHA)	ENSP00000495560.1:n.*1037T>C
ENST00000645274.1:c.*121T>C (HADHA)	ENSP00000493996.1:n.*121T>C
ENST00000646031.1:c.1772T>C (HADHA)
ENST00000380649.7:c.*121T>C (HADHA)	ENSP00000370023.3:n.*121T>C
NM_000182.4:c.*121T>C (HADHA)	NP_000173.2:n.*121T>C
XM_011532567.1:c.1683+3814A>G (GAREM2)	XP_011530869.1:n.1683+3814A>G
XM_011532567.3:c.1683+3814A>G (GAREM2)	XP_011530869.1:n.1683+3814A>G
NM_000182.5:c.*121T>C (HADHA) MANE Select	NP_000173.2:n.*121T>C