Canonical Allele Identifier: CA346111336

Gene: HADHA GAREM2

Linked Data

• gnomAD v4: 2-26191262-C-A
• MyVariant Identifiers: chr2:g.26414131C>A (hg19) ; chr2:g.26191262C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191262C>A , CM000664.2:g.26191262C>A	GRCh38
NC_000002.11:g.26414131C>A , CM000664.1:g.26414131C>A	GRCh37
NC_000002.10:g.26267635C>A	NCBI36
NG_007121.1:g.58359G>T
NG_007121.2:g.58360G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.2280G>T (HADHA) MANE Select	ENSP00000370023.3:p.Lys760Asn
ENST00000492433.2:c.2367G>T (HADHA)	ENSP00000438039.2:p.Lys789Asn
ENST00000643057.1:c.*2258G>T (HADHA)	ENSP00000493761.1:n.*2258G>T
ENST00000643063.1:c.*1326G>T (HADHA)	ENSP00000495353.1:n.*1326G>T
ENST00000643233.1:c.*2171G>T (HADHA)	ENSP00000493880.1:n.*2171G>T
ENST00000644428.1:c.*904G>T (HADHA)	ENSP00000495560.1:n.*904G>T
ENST00000645274.1:c.2175G>T (HADHA)	ENSP00000493996.1:p.Lys725Asn
ENST00000646031.1:c.1639G>T (HADHA)
ENST00000646483.1:c.2146G>T (HADHA)	ENSP00000496185.1:n.2146G>T
ENST00000380649.7:c.2280G>T (HADHA)	ENSP00000370023.3:p.Lys760Asn
NM_000182.4:c.2280G>T (HADHA)	NP_000173.2:p.Lys760Asn
XM_011532567.1:c.1683+3947C>A (GAREM2)	XP_011530869.1:n.1683+3947C>A
XM_011532567.3:c.1683+3947C>A (GAREM2)	XP_011530869.1:n.1683+3947C>A
NM_000182.5:c.2280G>T (HADHA) MANE Select	NP_000173.2:p.Lys760Asn