Canonical Allele Identifier: CA346115593

Gene: HADHA GAREM2

Linked Data

• MyVariant Identifiers: chr2:g.26415284G>C (hg19) ; chr2:g.26192415G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26192415G>C , CM000664.2:g.26192415G>C	GRCh38
NC_000002.11:g.26415284G>C , CM000664.1:g.26415284G>C	GRCh37
NC_000002.10:g.26268788G>C	NCBI36
NG_007121.1:g.57206C>G
NG_007121.2:g.57207C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1895C>G (HADHA) MANE Select	ENSP00000370023.3:p.Ser632Cys
ENST00000492433.2:c.1895C>G (HADHA)	ENSP00000438039.2:p.Ser632Cys
ENST00000643057.1:c.*1786C>G (HADHA)	ENSP00000493761.1:n.*1786C>G
ENST00000643063.1:c.*941C>G (HADHA)	ENSP00000495353.1:n.*941C>G
ENST00000643233.1:c.*1786C>G (HADHA)	ENSP00000493880.1:n.*1786C>G
ENST00000644428.1:c.*519C>G (HADHA)	ENSP00000495560.1:n.*519C>G
ENST00000645274.1:c.1790C>G (HADHA)	ENSP00000493996.1:p.Ser597Cys
ENST00000646031.1:c.1254C>G (HADHA)
ENST00000646483.1:c.1761C>G (HADHA)	ENSP00000496185.1:n.1761C>G
ENST00000380649.7:c.1895C>G (HADHA)	ENSP00000370023.3:p.Ser632Cys
ENST00000492433.1:c.353C>G (HADHA)	ENSP00000438039.1:p.Ser118Cys
NM_000182.4:c.1895C>G (HADHA)	NP_000173.2:p.Ser632Cys
XM_011532567.1:c.1683+5100G>C (GAREM2)	XP_011530869.1:n.1683+5100G>C
XM_011532567.3:c.1683+5100G>C (GAREM2)	XP_011530869.1:n.1683+5100G>C
NM_000182.5:c.1895C>G (HADHA) MANE Select	NP_000173.2:p.Ser632Cys