Canonical Allele Identifier: CA346115669

Gene: HADHA GAREM2

Linked Data

• ClinVar Variation Id: 1916438
• ClinVar RCV Id: RCV002590426
• gnomAD v4: 2-26192422-G-C
• MyVariant Identifiers: chr2:g.26415291G>C (hg19) ; chr2:g.26192422G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26192422G>C , CM000664.2:g.26192422G>C	GRCh38
NC_000002.11:g.26415291G>C , CM000664.1:g.26415291G>C	GRCh37
NC_000002.10:g.26268795G>C	NCBI36
NG_007121.1:g.57199C>G
NG_007121.2:g.57200C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1888C>G (HADHA) MANE Select	ENSP00000370023.3:p.Arg630Gly
ENST00000492433.2:c.1888C>G (HADHA)	ENSP00000438039.2:p.Arg630Gly
ENST00000643057.1:c.*1779C>G (HADHA)	ENSP00000493761.1:n.*1779C>G
ENST00000643063.1:c.*934C>G (HADHA)	ENSP00000495353.1:n.*934C>G
ENST00000643233.1:c.*1779C>G (HADHA)	ENSP00000493880.1:n.*1779C>G
ENST00000644428.1:c.*512C>G (HADHA)	ENSP00000495560.1:n.*512C>G
ENST00000645274.1:c.1783C>G (HADHA)	ENSP00000493996.1:p.Arg595Gly
ENST00000646031.1:c.1247C>G (HADHA)
ENST00000646483.1:c.1754C>G (HADHA)	ENSP00000496185.1:n.1754C>G
ENST00000380649.7:c.1888C>G (HADHA)	ENSP00000370023.3:p.Arg630Gly
ENST00000492433.1:c.346C>G (HADHA)	ENSP00000438039.1:p.Arg116Gly
NM_000182.4:c.1888C>G (HADHA)	NP_000173.2:p.Arg630Gly
XM_011532567.1:c.1683+5107G>C (GAREM2)	XP_011530869.1:n.1683+5107G>C
XM_011532567.3:c.1683+5107G>C (GAREM2)	XP_011530869.1:n.1683+5107G>C
NM_000182.5:c.1888C>G (HADHA) MANE Select	NP_000173.2:p.Arg630Gly