Canonical Allele Identifier: CA658823096

Gene: HADHA GAREM2

Linked Data

• ClinVar Variation Id: 551505
• ClinVar RCV Id: RCV000666585
• dbSNP Id: rs1553311804
• MyVariant Identifiers: chr2:g.26192351dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26192351dup , CM000664.2:g.26192351dup	GRCh38
NC_000002.11:g.26415220dup , CM000664.1:g.26415220dup	GRCh37
NC_000002.10:g.26268724dup	NCBI36
NG_007121.1:g.57270dup
NG_007121.2:g.57271dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000380649.8:c.1959dup (HADHA) MANE Select	ENSP00000370023.3:p.Ser654Ter
ENST00000492433.2:c.1959dup (HADHA)	ENSP00000438039.2:p.Ser654Ter
ENST00000643057.1:c.*1850dup (HADHA)	ENSP00000493761.1:n.*1850dup
ENST00000643063.1:c.*1005dup (HADHA)	ENSP00000495353.1:n.*1005dup
ENST00000643233.1:c.*1850dup (HADHA)	ENSP00000493880.1:n.*1850dup
ENST00000644428.1:c.*583dup (HADHA)	ENSP00000495560.1:n.*583dup
ENST00000645274.1:c.1854dup (HADHA)	ENSP00000493996.1:p.Ser619Ter
ENST00000646031.1:c.1318dup (HADHA)
ENST00000646483.1:c.1825dup (HADHA)	ENSP00000496185.1:n.1825dup
ENST00000380649.7:c.1959dup (HADHA)	ENSP00000370023.3:p.Ser654Ter
ENST00000492433.1:c.417dup (HADHA)	ENSP00000438039.1:p.Ser140Ter
NM_000182.4:c.1959dup (HADHA)	NP_000173.2:p.Ser654Ter
XM_011532567.1:c.1683+5036dup (GAREM2)	XP_011530869.1:n.1683+5036dup
XM_011532567.3:c.1683+5036dup (GAREM2)	XP_011530869.1:n.1683+5036dup
NM_000182.5:c.1959dup (HADHA) MANE Select	NP_000173.2:p.Ser654Ter