Canonical Allele Identifier: CA346117196

Gene: HADHA GAREM2

Linked Data

• gnomAD v4: 2-26193588-T-C
• MyVariant Identifiers: chr2:g.26416457T>C (hg19) ; chr2:g.26193588T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26193588T>C , CM000664.2:g.26193588T>C	GRCh38
NC_000002.11:g.26416457T>C , CM000664.1:g.26416457T>C	GRCh37
NC_000002.10:g.26269961T>C	NCBI36
NG_007121.1:g.56033A>G
NG_007121.2:g.56034A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1874A>G (HADHA) MANE Select	ENSP00000370023.3:p.Lys625Arg
ENST00000492433.2:c.1874A>G (HADHA)	ENSP00000438039.2:p.Lys625Arg
ENST00000643057.1:c.*1765A>G (HADHA)	ENSP00000493761.1:n.*1765A>G
ENST00000643063.1:c.*920A>G (HADHA)	ENSP00000495353.1:n.*920A>G
ENST00000643233.1:c.*1765A>G (HADHA)	ENSP00000493880.1:n.*1765A>G
ENST00000644428.1:c.*498A>G (HADHA)	ENSP00000495560.1:n.*498A>G
ENST00000645274.1:c.1769A>G (HADHA)	ENSP00000493996.1:p.Lys590Arg
ENST00000646031.1:c.1233A>G (HADHA)
ENST00000646483.1:c.1740A>G (HADHA)	ENSP00000496185.1:n.1740A>G
ENST00000380649.7:c.1874A>G (HADHA)	ENSP00000370023.3:p.Lys625Arg
ENST00000492433.1:c.332A>G (HADHA)	ENSP00000438039.1:p.Lys111Arg
NM_000182.4:c.1874A>G (HADHA)	NP_000173.2:p.Lys625Arg
XM_011532567.1:c.1683+6273T>C (GAREM2)	XP_011530869.1:n.1683+6273T>C
XM_011532567.3:c.1683+6273T>C (GAREM2)	XP_011530869.1:n.1683+6273T>C
NM_000182.5:c.1874A>G (HADHA) MANE Select	NP_000173.2:p.Lys625Arg