Canonical Allele Identifier: CA425200227

Gene: HADHA GAREM2

Linked Data

• MyVariant Identifiers: chr2:g.26416459G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26193590G>C , CM000664.2:g.26193590G>C	GRCh38
NC_000002.11:g.26416459G>C , CM000664.1:g.26416459G>C	GRCh37
NC_000002.10:g.26269963G>C	NCBI36
NG_007121.1:g.56031C>G
NG_007121.2:g.56032C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1872C>G (HADHA) MANE Select	ENSP00000370023.3:p.Ser624=
ENST00000492433.2:c.1872C>G (HADHA)	ENSP00000438039.2:p.Ser624=
ENST00000643057.1:c.*1763C>G (HADHA)	ENSP00000493761.1:n.*1763C>G
ENST00000643063.1:c.*918C>G (HADHA)	ENSP00000495353.1:n.*918C>G
ENST00000643233.1:c.*1763C>G (HADHA)	ENSP00000493880.1:n.*1763C>G
ENST00000644428.1:c.*496C>G (HADHA)	ENSP00000495560.1:n.*496C>G
ENST00000645274.1:c.1767C>G (HADHA)	ENSP00000493996.1:p.Ser589=
ENST00000646031.1:c.1231C>G (HADHA)
ENST00000646483.1:c.1738C>G (HADHA)	ENSP00000496185.1:n.1738C>G
ENST00000380649.7:c.1872C>G (HADHA)	ENSP00000370023.3:p.Ser624=
ENST00000492433.1:c.330C>G (HADHA)	ENSP00000438039.1:p.Ser110=
NM_000182.4:c.1872C>G (HADHA)	NP_000173.2:p.Ser624=
XM_011532567.1:c.1683+6275G>C (GAREM2)	XP_011530869.1:n.1683+6275G>C
XM_011532567.3:c.1683+6275G>C (GAREM2)	XP_011530869.1:n.1683+6275G>C
NM_000182.5:c.1872C>G (HADHA) MANE Select	NP_000173.2:p.Ser624=