Canonical Allele Identifier: CA346111908

Gene: HADHA GAREM2

Linked Data

• MyVariant Identifiers: chr2:g.26414259A>G (hg19) ; chr2:g.26191390A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191390A>G , CM000664.2:g.26191390A>G	GRCh38
NC_000002.11:g.26414259A>G , CM000664.1:g.26414259A>G	GRCh37
NC_000002.10:g.26267763A>G	NCBI36
NG_007121.1:g.58231T>C
NG_007121.2:g.58232T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.2152T>C (HADHA) MANE Select	ENSP00000370023.3:p.Phe718Leu
ENST00000492433.2:c.2239T>C (HADHA)	ENSP00000438039.2:p.Phe747Leu
ENST00000643057.1:c.*2130T>C (HADHA)	ENSP00000493761.1:n.*2130T>C
ENST00000643063.1:c.*1198T>C (HADHA)	ENSP00000495353.1:n.*1198T>C
ENST00000643233.1:c.*2043T>C (HADHA)	ENSP00000493880.1:n.*2043T>C
ENST00000644428.1:c.*776T>C (HADHA)	ENSP00000495560.1:n.*776T>C
ENST00000645274.1:c.2047T>C (HADHA)	ENSP00000493996.1:p.Phe683Leu
ENST00000646031.1:c.1511T>C (HADHA)
ENST00000646483.1:c.2018T>C (HADHA)	ENSP00000496185.1:n.2018T>C
ENST00000380649.7:c.2152T>C (HADHA)	ENSP00000370023.3:p.Phe718Leu
ENST00000492433.1:c.697T>C (HADHA)	ENSP00000438039.1:p.Phe233Leu
NM_000182.4:c.2152T>C (HADHA)	NP_000173.2:p.Phe718Leu
XM_011532567.1:c.1683+4075A>G (GAREM2)	XP_011530869.1:n.1683+4075A>G
XM_011532567.3:c.1683+4075A>G (GAREM2)	XP_011530869.1:n.1683+4075A>G
NM_000182.5:c.2152T>C (HADHA) MANE Select	NP_000173.2:p.Phe718Leu