Canonical Allele Identifier: CA346115203

Gene: HADHA GAREM2

Linked Data

• ClinVar Variation Id: 2927833
• ClinVar RCV Id: RCV003784463
• MyVariant Identifiers: chr2:g.26415262A>T (hg19) ; chr2:g.26192393A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26192393A>T , CM000664.2:g.26192393A>T	GRCh38
NC_000002.11:g.26415262A>T , CM000664.1:g.26415262A>T	GRCh37
NC_000002.10:g.26268766A>T	NCBI36
NG_007121.1:g.57228T>A
NG_007121.2:g.57229T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1917T>A (HADHA) MANE Select	ENSP00000370023.3:p.Tyr639Ter
ENST00000492433.2:c.1917T>A (HADHA)	ENSP00000438039.2:p.Tyr639Ter
ENST00000643057.1:c.*1808T>A (HADHA)	ENSP00000493761.1:n.*1808T>A
ENST00000643063.1:c.*963T>A (HADHA)	ENSP00000495353.1:n.*963T>A
ENST00000643233.1:c.*1808T>A (HADHA)	ENSP00000493880.1:n.*1808T>A
ENST00000644428.1:c.*541T>A (HADHA)	ENSP00000495560.1:n.*541T>A
ENST00000645274.1:c.1812T>A (HADHA)	ENSP00000493996.1:p.Tyr604Ter
ENST00000646031.1:c.1276T>A (HADHA)
ENST00000646483.1:c.1783T>A (HADHA)	ENSP00000496185.1:n.1783T>A
ENST00000380649.7:c.1917T>A (HADHA)	ENSP00000370023.3:p.Tyr639Ter
ENST00000492433.1:c.375T>A (HADHA)	ENSP00000438039.1:p.Tyr125Ter
NM_000182.4:c.1917T>A (HADHA)	NP_000173.2:p.Tyr639Ter
XM_011532567.1:c.1683+5078A>T (GAREM2)	XP_011530869.1:n.1683+5078A>T
XM_011532567.3:c.1683+5078A>T (GAREM2)	XP_011530869.1:n.1683+5078A>T
NM_000182.5:c.1917T>A (HADHA) MANE Select	NP_000173.2:p.Tyr639Ter