Canonical Allele Identifier: CA346114680

Gene: HADHA GAREM2

Linked Data

• MyVariant Identifiers: chr2:g.26415218C>G (hg19) ; chr2:g.26192349C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26192349C>G , CM000664.2:g.26192349C>G	GRCh38
NC_000002.11:g.26415218C>G , CM000664.1:g.26415218C>G	GRCh37
NC_000002.10:g.26268722C>G	NCBI36
NG_007121.1:g.57272G>C
NG_007121.2:g.57273G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000380649.8:c.1961G>C (HADHA) MANE Select	ENSP00000370023.3:p.Ser654Thr
ENST00000492433.2:c.1961G>C (HADHA)	ENSP00000438039.2:p.Ser654Thr
ENST00000643057.1:c.*1852G>C (HADHA)	ENSP00000493761.1:n.*1852G>C
ENST00000643063.1:c.*1007G>C (HADHA)	ENSP00000495353.1:n.*1007G>C
ENST00000643233.1:c.*1852G>C (HADHA)	ENSP00000493880.1:n.*1852G>C
ENST00000644428.1:c.*585G>C (HADHA)	ENSP00000495560.1:n.*585G>C
ENST00000645274.1:c.1856G>C (HADHA)	ENSP00000493996.1:p.Ser619Thr
ENST00000646031.1:c.1320G>C (HADHA)
ENST00000646483.1:c.1827G>C (HADHA)	ENSP00000496185.1:n.1827G>C
ENST00000380649.7:c.1961G>C (HADHA)	ENSP00000370023.3:p.Ser654Thr
ENST00000492433.1:c.419G>C (HADHA)	ENSP00000438039.1:p.Ser140Thr
NM_000182.4:c.1961G>C (HADHA)	NP_000173.2:p.Ser654Thr
XM_011532567.1:c.1683+5034C>G (GAREM2)	XP_011530869.1:n.1683+5034C>G
XM_011532567.3:c.1683+5034C>G (GAREM2)	XP_011530869.1:n.1683+5034C>G
NM_000182.5:c.1961G>C (HADHA) MANE Select	NP_000173.2:p.Ser654Thr