Canonical Allele Identifier: CA658823097

Gene: HADHA GAREM2

Linked Data

• ClinVar Variation Id: 555525
• ClinVar RCV Id: RCV000671365
• dbSNP Id: rs796051971
• MyVariant Identifiers: chr2:g.26192391_26192393dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26192392_26192394dup , CM000664.2:g.26192392_26192394dup	GRCh38
NC_000002.11:g.26415261_26415263dup , CM000664.1:g.26415261_26415263dup	GRCh37
NC_000002.10:g.26268765_26268767dup	NCBI36
NG_007121.1:g.57228_57230dup
NG_007121.2:g.57229_57231dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1917_1919dup (HADHA) MANE Select	ENSP00000370023.3:p.Tyr639_Gln640insHis
ENST00000492433.2:c.1917_1919dup (HADHA)	ENSP00000438039.2:p.Tyr639_Gln640insHis
ENST00000643057.1:c.*1808_*1810dup (HADHA)	ENSP00000493761.1:n.*1808_*1810dup
ENST00000643063.1:c.*963_*965dup (HADHA)	ENSP00000495353.1:n.*963_*965dup
ENST00000643233.1:c.*1808_*1810dup (HADHA)	ENSP00000493880.1:n.*1808_*1810dup
ENST00000644428.1:c.*541_*543dup (HADHA)	ENSP00000495560.1:n.*541_*543dup
ENST00000645274.1:c.1812_1814dup (HADHA)	ENSP00000493996.1:p.Tyr604_Gln605insHis
ENST00000646031.1:c.1276_1278dup (HADHA)
ENST00000646483.1:c.1783_1785dup (HADHA)	ENSP00000496185.1:n.1783_1785dup
ENST00000380649.7:c.1917_1919dup (HADHA)	ENSP00000370023.3:p.Tyr639_Gln640insHis
ENST00000492433.1:c.375_377dup (HADHA)	ENSP00000438039.1:p.Tyr125_Gln126insHis
NM_000182.4:c.1917_1919dup (HADHA)	NP_000173.2:p.Tyr639_Gln640insHis
XM_011532567.1:c.1683+5077_1683+5079dup (GAREM2)	XP_011530869.1:n.1683+5077_1683+5079dup
XM_011532567.3:c.1683+5077_1683+5079dup (GAREM2)	XP_011530869.1:n.1683+5077_1683+5079dup
NM_000182.5:c.1917_1919dup (HADHA) MANE Select	NP_000173.2:p.Tyr639_Gln640insHis