Canonical Allele Identifier: CA346112980

Gene: HADHA GAREM2

Linked Data

• MyVariant Identifiers: chr2:g.26414420A>C (hg19) ; chr2:g.26191551A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191551A>C , CM000664.2:g.26191551A>C	GRCh38
NC_000002.11:g.26414420A>C , CM000664.1:g.26414420A>C	GRCh37
NC_000002.10:g.26267924A>C	NCBI36
NG_007121.1:g.58070T>G
NG_007121.2:g.58071T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.2078T>G (HADHA) MANE Select	ENSP00000370023.3:p.Ile693Ser
ENST00000492433.2:c.2078T>G (HADHA)	ENSP00000438039.2:p.Ile693Ser
ENST00000643057.1:c.*1969T>G (HADHA)	ENSP00000493761.1:n.*1969T>G
ENST00000643063.1:c.*1124T>G (HADHA)	ENSP00000495353.1:n.*1124T>G
ENST00000643233.1:c.*1969T>G (HADHA)	ENSP00000493880.1:n.*1969T>G
ENST00000644428.1:c.*702T>G (HADHA)	ENSP00000495560.1:n.*702T>G
ENST00000645274.1:c.1973T>G (HADHA)	ENSP00000493996.1:p.Ile658Ser
ENST00000646031.1:c.1437T>G (HADHA)
ENST00000646483.1:c.1944T>G (HADHA)	ENSP00000496185.1:n.1944T>G
ENST00000380649.7:c.2078T>G (HADHA)	ENSP00000370023.3:p.Ile693Ser
ENST00000492433.1:c.536T>G (HADHA)	ENSP00000438039.1:p.Ile179Ser
NM_000182.4:c.2078T>G (HADHA)	NP_000173.2:p.Ile693Ser
XM_011532567.1:c.1683+4236A>C (GAREM2)	XP_011530869.1:n.1683+4236A>C
XM_011532567.3:c.1683+4236A>C (GAREM2)	XP_011530869.1:n.1683+4236A>C
NM_000182.5:c.2078T>G (HADHA) MANE Select	NP_000173.2:p.Ile693Ser