Canonical Allele Identifier: CA425357856

Gene: HADHA GAREM2

Linked Data

• gnomAD v4: 2-26191325-G-A
• MyVariant Identifiers: chr2:g.26414194G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191325G>A , CM000664.2:g.26191325G>A	GRCh38
NC_000002.11:g.26414194G>A , CM000664.1:g.26414194G>A	GRCh37
NC_000002.10:g.26267698G>A	NCBI36
NG_007121.1:g.58296C>T
NG_007121.2:g.58297C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.2217C>T (HADHA) MANE Select	ENSP00000370023.3:p.Ala739=
ENST00000492433.2:c.2304C>T (HADHA)	ENSP00000438039.2:p.Ala768=
ENST00000643057.1:c.*2195C>T (HADHA)	ENSP00000493761.1:n.*2195C>T
ENST00000643063.1:c.*1263C>T (HADHA)	ENSP00000495353.1:n.*1263C>T
ENST00000643233.1:c.*2108C>T (HADHA)	ENSP00000493880.1:n.*2108C>T
ENST00000644428.1:c.*841C>T (HADHA)	ENSP00000495560.1:n.*841C>T
ENST00000645274.1:c.2112C>T (HADHA)	ENSP00000493996.1:p.Ala704=
ENST00000646031.1:c.1576C>T (HADHA)
ENST00000646483.1:c.2083C>T (HADHA)	ENSP00000496185.1:n.2083C>T
ENST00000380649.7:c.2217C>T (HADHA)	ENSP00000370023.3:p.Ala739=
NM_000182.4:c.2217C>T (HADHA)	NP_000173.2:p.Ala739=
XM_011532567.1:c.1683+4010G>A (GAREM2)	XP_011530869.1:n.1683+4010G>A
XM_011532567.3:c.1683+4010G>A (GAREM2)	XP_011530869.1:n.1683+4010G>A
NM_000182.5:c.2217C>T (HADHA) MANE Select	NP_000173.2:p.Ala739=