Canonical Allele Identifier: CA341338
Gene: HADHB HGNC NCBI

Linked Data

ClinVar Variation Id: 14844
ClinVar RCV Id: RCV003156214
dbSNP Id: rs121913131
MyVariant Identifiers: chr2:g.26502160A>G (hg19) chr2:g.26279292A>G (hg38)
PubMed: PMID:8163672 PMID:8651282
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26279292A>G , CM000664.2:g.26279292A>G GRCh38
NC_000002.11:g.26502160A>G , CM000664.1:g.26502160A>G GRCh37
NC_000002.10:g.26355664A>G NCBI36
NG_007294.1:g.39340A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000317799.10:c.788A>G MANE Select ENSP00000325136.5:p.Asp263Gly
ENST00000317799.9:c.788A>G ENSP00000325136.5:p.Asp263Gly
ENST00000405867.7:c.443-702A>G ENSP00000385411.3:n.443-702A>G
ENST00000494615.1:n.1735A>G
ENST00000537713.5:c.743A>G ENSP00000444295.1:p.Asp248Gly
ENST00000545822.2:c.722A>G ENSP00000442665.1:p.Asp241Gly
NM_000183.2:c.788A>G NP_000174.1:p.Asp263Gly
NM_001281512.1:c.743A>G NP_001268441.1:p.Asp248Gly
NM_001281513.1:c.722A>G NP_001268442.1:p.Asp241Gly
XM_011532803.1:c.788A>G XP_011531105.1:p.Asp263Gly
XM_011532804.1:c.722A>G XP_011531106.1:p.Asp241Gly
XM_024452830.1:c.758A>G XP_024308598.1:p.Asp253Gly
XM_024452831.1:c.722A>G XP_024308599.1:p.Asp241Gly
NM_000183.3:c.788A>G MANE Select NP_000174.1:p.Asp263Gly
NM_001281513.2:c.722A>G NP_001268442.1:p.Asp241Gly
NM_001281512.2:c.743A>G NP_001268441.1:p.Asp248Gly
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