Canonical Allele Identifier: CA1559419

Gene: HADHA GAREM2

Linked Data

• dbSNP Id: rs745926002
• ExAC: 2:26415269 T / TA
• gnomAD v2: 2-26415269-T-TA
• gnomAD v4: 2-26192400-T-TA
• MyVariant Identifiers: chr2:g.26415269_26415270insA (hg19) ; chr2:g.26192400_26192401insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26192404dup , CM000664.2:g.26192404dup	GRCh38
NC_000002.11:g.26415273dup , CM000664.1:g.26415273dup	GRCh37
NC_000002.10:g.26268777dup	NCBI36
NG_007121.1:g.57220dup
NG_007121.2:g.57221dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000380649.8:c.1909dup (HADHA) MANE Select	ENSP00000370023.3:p.Tyr637LeufsTer15
ENST00000492433.2:c.1909dup (HADHA)	ENSP00000438039.2:p.Tyr637LeufsTer15
ENST00000643057.1:c.*1800dup (HADHA)	ENSP00000493761.1:n.*1800dup
ENST00000643063.1:c.*955dup (HADHA)	ENSP00000495353.1:n.*955dup
ENST00000643233.1:c.*1800dup (HADHA)	ENSP00000493880.1:n.*1800dup
ENST00000644428.1:c.*533dup (HADHA)	ENSP00000495560.1:n.*533dup
ENST00000645274.1:c.1804dup (HADHA)	ENSP00000493996.1:p.Tyr602LeufsTer15
ENST00000646031.1:c.1268dup (HADHA)
ENST00000646483.1:c.1775dup (HADHA)	ENSP00000496185.1:n.1775dup
ENST00000380649.7:c.1909dup (HADHA)	ENSP00000370023.3:p.Tyr637LeufsTer15
ENST00000492433.1:c.367dup (HADHA)	ENSP00000438039.1:p.Tyr123LeufsTer15
NM_000182.4:c.1909dup (HADHA)	NP_000173.2:p.Tyr637LeufsTer15
XM_011532567.1:c.1683+5089dup (GAREM2)	XP_011530869.1:n.1683+5089dup
XM_011532567.3:c.1683+5089dup (GAREM2)	XP_011530869.1:n.1683+5089dup
NM_000182.5:c.1909dup (HADHA) MANE Select	NP_000173.2:p.Tyr637LeufsTer15