Canonical Allele Identifier: CA199104

Gene: HADHA GAREM2

Linked Data

• ClinVar Variation Id: 188962
• ClinVar RCV Id: RCV000169337 ; RCV001041924 ; RCV001778769 ; RCV003153460
• dbSNP Id: rs769580842
• ExAC: 2:26416536 CAT / C
• gnomAD v2: 2-26416536-CAT-C
• gnomAD v3: 2-26193667-CAT-C
• gnomAD v4: 2-26193667-CAT-C
• MyVariant Identifiers: chr2:g.26416537_26416538del (hg19) ; chr2:g.26193668_26193669del (hg38)
• PubMed: PMID:11855930 ; PMID:12442268 ; PMID:12971428

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26193668_26193669del , CM000664.2:g.26193668_26193669del	GRCh38
NC_000002.11:g.26416537_26416538del , CM000664.1:g.26416537_26416538del	GRCh37
NC_000002.10:g.26270041_26270042del	NCBI36
NG_007121.1:g.55952_55953del
NG_007121.2:g.55953_55954del

Transcript Alleles

HGVS	Amino-acid change
ENST00000380649.8:c.1793_1794del (HADHA) MANE Select	ENSP00000370023.3:p.His598ArgfsTer?
ENST00000492433.2:c.1793_1794del (HADHA)	ENSP00000438039.2:p.His598ArgfsTer?
ENST00000643057.1:c.*1684_*1685del (HADHA)	ENSP00000493761.1:n.*1684_*1685del
ENST00000643063.1:c.*839_*840del (HADHA)	ENSP00000495353.1:n.*839_*840del
ENST00000643233.1:c.*1684_*1685del (HADHA)	ENSP00000493880.1:n.*1684_*1685del
ENST00000644428.1:c.*417_*418del (HADHA)	ENSP00000495560.1:n.*417_*418del
ENST00000645274.1:c.1688_1689del (HADHA)	ENSP00000493996.1:p.His563ArgfsTer?
ENST00000646031.1:c.1152_1153del (HADHA)
ENST00000646483.1:c.1659_1660del (HADHA)	ENSP00000496185.1:n.1659_1660del
ENST00000380649.7:c.1793_1794del (HADHA)	ENSP00000370023.3:p.His598ArgfsTer?
ENST00000492433.1:c.251_252del (HADHA)	ENSP00000438039.1:p.His84ArgfsTer?
NM_000182.4:c.1793_1794del (HADHA)	NP_000173.2:p.His598ArgfsTer?
XM_011532567.1:c.1683+6353_1683+6354del (GAREM2)	XP_011530869.1:n.1683+6353_1683+6354del
XM_011532567.3:c.1683+6353_1683+6354del (GAREM2)	XP_011530869.1:n.1683+6353_1683+6354del
NM_000182.5:c.1793_1794del (HADHA) MANE Select	NP_000173.2:p.His598ArgfsTer?