Canonical Allele Identifier: CA425357921

Gene: HADHA GAREM2

Linked Data

• MyVariant Identifiers: chr2:g.26414353T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191484T>C , CM000664.2:g.26191484T>C	GRCh38
NC_000002.11:g.26414353T>C , CM000664.1:g.26414353T>C	GRCh37
NC_000002.10:g.26267857T>C	NCBI36
NG_007121.1:g.58137A>G
NG_007121.2:g.58138A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000380649.8:c.2145A>G (HADHA) MANE Select	ENSP00000370023.3:p.Gly715=
ENST00000492433.2:c.2145A>G (HADHA)	ENSP00000438039.2:p.Gly715=
ENST00000643057.1:c.*2036A>G (HADHA)	ENSP00000493761.1:n.*2036A>G
ENST00000643063.1:c.*1191A>G (HADHA)	ENSP00000495353.1:n.*1191A>G
ENST00000643233.1:c.*2036A>G (HADHA)	ENSP00000493880.1:n.*2036A>G
ENST00000644428.1:c.*769A>G (HADHA)	ENSP00000495560.1:n.*769A>G
ENST00000645274.1:c.2040A>G (HADHA)	ENSP00000493996.1:p.Gly680=
ENST00000646031.1:c.1504A>G (HADHA)
ENST00000646483.1:c.2011A>G (HADHA)	ENSP00000496185.1:n.2011A>G
ENST00000380649.7:c.2145A>G (HADHA)	ENSP00000370023.3:p.Gly715=
ENST00000492433.1:c.603A>G (HADHA)	ENSP00000438039.1:p.Gly201=
NM_000182.4:c.2145A>G (HADHA)	NP_000173.2:p.Gly715=
XM_011532567.1:c.1683+4169T>C (GAREM2)	XP_011530869.1:n.1683+4169T>C
XM_011532567.3:c.1683+4169T>C (GAREM2)	XP_011530869.1:n.1683+4169T>C
NM_000182.5:c.2145A>G (HADHA) MANE Select	NP_000173.2:p.Gly715=