Canonical Allele Identifier: CA346115240

Gene: HADHA GAREM2

Linked Data

• gnomAD v4: 2-26192395-A-C
• MyVariant Identifiers: chr2:g.26415264A>C (hg19) ; chr2:g.26192395A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26192395A>C , CM000664.2:g.26192395A>C	GRCh38
NC_000002.11:g.26415264A>C , CM000664.1:g.26415264A>C	GRCh37
NC_000002.10:g.26268768A>C	NCBI36
NG_007121.1:g.57226T>G
NG_007121.2:g.57227T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000380649.8:c.1915T>G (HADHA) MANE Select	ENSP00000370023.3:p.Tyr639Asp
ENST00000492433.2:c.1915T>G (HADHA)	ENSP00000438039.2:p.Tyr639Asp
ENST00000643057.1:c.*1806T>G (HADHA)	ENSP00000493761.1:n.*1806T>G
ENST00000643063.1:c.*961T>G (HADHA)	ENSP00000495353.1:n.*961T>G
ENST00000643233.1:c.*1806T>G (HADHA)	ENSP00000493880.1:n.*1806T>G
ENST00000644428.1:c.*539T>G (HADHA)	ENSP00000495560.1:n.*539T>G
ENST00000645274.1:c.1810T>G (HADHA)	ENSP00000493996.1:p.Tyr604Asp
ENST00000646031.1:c.1274T>G (HADHA)
ENST00000646483.1:c.1781T>G (HADHA)	ENSP00000496185.1:n.1781T>G
ENST00000380649.7:c.1915T>G (HADHA)	ENSP00000370023.3:p.Tyr639Asp
ENST00000492433.1:c.373T>G (HADHA)	ENSP00000438039.1:p.Tyr125Asp
NM_000182.4:c.1915T>G (HADHA)	NP_000173.2:p.Tyr639Asp
XM_011532567.1:c.1683+5080A>C (GAREM2)	XP_011530869.1:n.1683+5080A>C
XM_011532567.3:c.1683+5080A>C (GAREM2)	XP_011530869.1:n.1683+5080A>C
NM_000182.5:c.1915T>G (HADHA) MANE Select	NP_000173.2:p.Tyr639Asp