Canonical Allele Identifier: CA312594
Gene: HADHB HGNC NCBI

Linked Data

ClinVar Variation Id: 203752
ClinVar RCV Id: RCV000185943
dbSNP Id: rs796051974
MyVariant Identifiers: chr2:g.26505917del (hg19) chr2:g.26283049del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26283049del , CM000664.2:g.26283049del GRCh38
NC_000002.11:g.26505917del , CM000664.1:g.26505917del GRCh37
NC_000002.10:g.26359421del NCBI36
NG_007294.1:g.43097del

Transcript Alleles

HGVS Amino-acid change
ENST00000317799.10:c.1059del MANE Select ENSP00000325136.5:p.Gly354AspfsTer10
ENST00000317799.9:c.1059del ENSP00000325136.5:p.Gly354AspfsTer10
ENST00000405867.7:c.690del ENSP00000385411.3:p.Gly231AspfsTer10
ENST00000494615.1:n.2006del
ENST00000537713.5:c.1014del ENSP00000444295.1:p.Gly339AspfsTer10
ENST00000545822.2:c.993del ENSP00000442665.1:p.Gly332AspfsTer10
NM_000183.2:c.1059del NP_000174.1:p.Gly354AspfsTer10
NM_001281512.1:c.1014del NP_001268441.1:p.Gly339AspfsTer10
NM_001281513.1:c.993del NP_001268442.1:p.Gly332AspfsTer10
XM_011532803.1:c.1059del XP_011531105.1:p.Gly354AspfsTer10
XM_011532804.1:c.993del XP_011531106.1:p.Gly332AspfsTer10
XM_024452830.1:c.1029del XP_024308598.1:p.Gly344AspfsTer10
XM_024452831.1:c.993del XP_024308599.1:p.Gly332AspfsTer10
NM_000183.3:c.1059del MANE Select NP_000174.1:p.Gly354AspfsTer10
NM_001281513.2:c.993del NP_001268442.1:p.Gly332AspfsTer10
NM_001281512.2:c.1014del NP_001268441.1:p.Gly339AspfsTer10
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