Canonical Allele Identifier: CA346120448

Gene: HADHA GAREM2

Linked Data

• gnomAD v4: 2-26195109-C-G
• MyVariant Identifiers: chr2:g.26417978C>G (hg19) ; chr2:g.26195109C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26195109C>G , CM000664.2:g.26195109C>G	GRCh38
NC_000002.11:g.26417978C>G , CM000664.1:g.26417978C>G	GRCh37
NC_000002.10:g.26271482C>G	NCBI36
NG_007121.1:g.54512G>C
NG_007121.2:g.54513G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1603G>C (HADHA) MANE Select	ENSP00000370023.3:p.Val535Leu
ENST00000492433.2:c.1603G>C (HADHA)	ENSP00000438039.2:p.Val535Leu
ENST00000643057.1:c.*1494G>C (HADHA)	ENSP00000493761.1:n.*1494G>C
ENST00000643063.1:c.*649G>C (HADHA)	ENSP00000495353.1:n.*649G>C
ENST00000643233.1:c.*1494G>C (HADHA)	ENSP00000493880.1:n.*1494G>C
ENST00000644428.1:c.*227G>C (HADHA)	ENSP00000495560.1:n.*227G>C
ENST00000645274.1:c.1498G>C (HADHA)	ENSP00000493996.1:p.Val500Leu
ENST00000646031.1:c.962G>C (HADHA)
ENST00000646483.1:c.1469G>C (HADHA)	ENSP00000496185.1:n.1469G>C
ENST00000380649.7:c.1603G>C (HADHA)	ENSP00000370023.3:p.Val535Leu
ENST00000492433.1:c.61G>C (HADHA)	ENSP00000438039.1:p.Val21Leu
NM_000182.4:c.1603G>C (HADHA)	NP_000173.2:p.Val535Leu
XM_011532567.1:c.1684-7124C>G (GAREM2)	XP_011530869.1:n.1684-7124C>G
XM_011532567.3:c.1684-7124C>G (GAREM2)	XP_011530869.1:n.1684-7124C>G
NM_000182.5:c.1603G>C (HADHA) MANE Select	NP_000173.2:p.Val535Leu