Canonical Allele Identifier: CA346121198

Gene: HADHA GAREM2

Linked Data

• dbSNP Id: rs1416404654
• MyVariant Identifiers: chr2:g.26418031G>C (hg19) ; chr2:g.26195162G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26195162G>C , CM000664.2:g.26195162G>C	GRCh38
NC_000002.11:g.26418031G>C , CM000664.1:g.26418031G>C	GRCh37
NC_000002.10:g.26271535G>C	NCBI36
NG_007121.1:g.54459C>G
NG_007121.2:g.54460C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1550C>G (HADHA) MANE Select	ENSP00000370023.3:p.Thr517Ser
ENST00000492433.2:c.1550C>G (HADHA)	ENSP00000438039.2:p.Thr517Ser
ENST00000643057.1:c.*1441C>G (HADHA)	ENSP00000493761.1:n.*1441C>G
ENST00000643063.1:c.*596C>G (HADHA)	ENSP00000495353.1:n.*596C>G
ENST00000643233.1:c.*1441C>G (HADHA)	ENSP00000493880.1:n.*1441C>G
ENST00000644428.1:c.*174C>G (HADHA)	ENSP00000495560.1:n.*174C>G
ENST00000645274.1:c.1445C>G (HADHA)	ENSP00000493996.1:p.Thr482Ser
ENST00000646031.1:c.909C>G (HADHA)
ENST00000646483.1:c.1416C>G (HADHA)	ENSP00000496185.1:n.1416C>G
ENST00000380649.7:c.1550C>G (HADHA)	ENSP00000370023.3:p.Thr517Ser
ENST00000492433.1:c.8C>G (HADHA)	ENSP00000438039.1:p.Thr3Ser
NM_000182.4:c.1550C>G (HADHA)	NP_000173.2:p.Thr517Ser
XM_011532567.1:c.1684-7071G>C (GAREM2)	XP_011530869.1:n.1684-7071G>C
XM_011532567.3:c.1684-7071G>C (GAREM2)	XP_011530869.1:n.1684-7071G>C
NM_000182.5:c.1550C>G (HADHA) MANE Select	NP_000173.2:p.Thr517Ser