Canonical Allele Identifier: CA341340

Gene: HADHB

Linked Data

• ClinVar Variation Id: 14846
• ClinVar RCV Id: RCV003156216 ; RCV003460481
• dbSNP Id: rs121913133
• ExAC: 2:26502112 G / A
• gnomAD v2: 2-26502112-G-A
• gnomAD v4: 2-26279244-G-A
• MyVariant Identifiers: chr2:g.26502112G>A (hg19) ; chr2:g.26279244G>A (hg38)
• PubMed: PMID:8651282

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26279244G>A , CM000664.2:g.26279244G>A	GRCh38
NC_000002.11:g.26502112G>A , CM000664.1:g.26502112G>A	GRCh37
NC_000002.10:g.26355616G>A	NCBI36
NG_007294.1:g.39292G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000317799.10:c.740G>A MANE Select	ENSP00000325136.5:p.Arg247His
ENST00000317799.9:c.740G>A	ENSP00000325136.5:p.Arg247His
ENST00000405867.7:c.443-750G>A	ENSP00000385411.3:n.443-750G>A
ENST00000494615.1:n.1687G>A
ENST00000537713.5:c.695G>A	ENSP00000444295.1:p.Arg232His
ENST00000545822.2:c.674G>A	ENSP00000442665.1:p.Arg225His
NM_000183.2:c.740G>A	NP_000174.1:p.Arg247His
NM_001281512.1:c.695G>A	NP_001268441.1:p.Arg232His
NM_001281513.1:c.674G>A	NP_001268442.1:p.Arg225His
XM_011532803.1:c.740G>A	XP_011531105.1:p.Arg247His
XM_011532804.1:c.674G>A	XP_011531106.1:p.Arg225His
XM_024452830.1:c.710G>A	XP_024308598.1:p.Arg237His
XM_024452831.1:c.674G>A	XP_024308599.1:p.Arg225His
NM_000183.3:c.740G>A MANE Select	NP_000174.1:p.Arg247His
NM_001281513.2:c.674G>A	NP_001268442.1:p.Arg225His
NM_001281512.2:c.695G>A	NP_001268441.1:p.Arg232His