Canonical Allele Identifier: CA346112912

Gene: HADHA GAREM2

Linked Data

• MyVariant Identifiers: chr2:g.26414412T>A (hg19) ; chr2:g.26191543T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191543T>A , CM000664.2:g.26191543T>A	GRCh38
NC_000002.11:g.26414412T>A , CM000664.1:g.26414412T>A	GRCh37
NC_000002.10:g.26267916T>A	NCBI36
NG_007121.1:g.58078A>T
NG_007121.2:g.58079A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.2086A>T (HADHA) MANE Select	ENSP00000370023.3:p.Thr696Ser
ENST00000492433.2:c.2086A>T (HADHA)	ENSP00000438039.2:p.Thr696Ser
ENST00000643057.1:c.*1977A>T (HADHA)	ENSP00000493761.1:n.*1977A>T
ENST00000643063.1:c.*1132A>T (HADHA)	ENSP00000495353.1:n.*1132A>T
ENST00000643233.1:c.*1977A>T (HADHA)	ENSP00000493880.1:n.*1977A>T
ENST00000644428.1:c.*710A>T (HADHA)	ENSP00000495560.1:n.*710A>T
ENST00000645274.1:c.1981A>T (HADHA)	ENSP00000493996.1:p.Thr661Ser
ENST00000646031.1:c.1445A>T (HADHA)
ENST00000646483.1:c.1952A>T (HADHA)	ENSP00000496185.1:n.1952A>T
ENST00000380649.7:c.2086A>T (HADHA)	ENSP00000370023.3:p.Thr696Ser
ENST00000492433.1:c.544A>T (HADHA)	ENSP00000438039.1:p.Thr182Ser
NM_000182.4:c.2086A>T (HADHA)	NP_000173.2:p.Thr696Ser
XM_011532567.1:c.1683+4228T>A (GAREM2)	XP_011530869.1:n.1683+4228T>A
XM_011532567.3:c.1683+4228T>A (GAREM2)	XP_011530869.1:n.1683+4228T>A
NM_000182.5:c.2086A>T (HADHA) MANE Select	NP_000173.2:p.Thr696Ser