Canonical Allele Identifier: CA531385413

Gene: HADHB

Linked Data

• ClinVar Variation Id: 733600
• ClinVar RCV Id: RCV000908914
• dbSNP Id: rs773618132
• gnomAD v2: 2-26486354-A-G
• gnomAD v4: 2-26263486-A-G
• MyVariant Identifiers: chr2:g.26486354A>G (hg19) ; chr2:g.26263486A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26263486A>G , CM000664.2:g.26263486A>G	GRCh38
NC_000002.11:g.26486354A>G , CM000664.1:g.26486354A>G	GRCh37
NC_000002.10:g.26339858A>G	NCBI36
NG_007294.1:g.23534A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000317799.10:c.209+7A>G MANE Select	ENSP00000325136.5:n.209+7A>G
ENST00000317799.9:c.209+7A>G	ENSP00000325136.5:n.209+7A>G
ENST00000405867.7:c.209+7A>G	ENSP00000385411.3:n.209+7A>G
ENST00000412805.5:c.209+7A>G	ENSP00000413103.1:n.209+7A>G
ENST00000425035.5:c.209+7A>G	ENSP00000404633.1:n.209+7A>G
ENST00000448743.5:c.209+7A>G	ENSP00000415300.1:n.209+7A>G
ENST00000494615.1:n.1156+7A>G
ENST00000537713.5:c.209+7A>G	ENSP00000444295.1:n.209+7A>G
ENST00000545822.2:c.143+7A>G	ENSP00000442665.1:n.143+7A>G
NM_000183.2:c.209+7A>G	NP_000174.1:n.209+7A>G
NM_001281512.1:c.209+7A>G	NP_001268441.1:n.209+7A>G
NM_001281513.1:c.143+7A>G	NP_001268442.1:n.143+7A>G
XM_011532803.1:c.209+7A>G	XP_011531105.1:n.209+7A>G
XM_011532804.1:c.143+7A>G	XP_011531106.1:n.143+7A>G
XM_024452830.1:c.179+7A>G	XP_024308598.1:n.179+7A>G
XM_024452831.1:c.143+7A>G	XP_024308599.1:n.143+7A>G
NM_000183.3:c.209+7A>G MANE Select	NP_000174.1:n.209+7A>G
NM_001281513.2:c.143+7A>G	NP_001268442.1:n.143+7A>G
NM_001281512.2:c.209+7A>G	NP_001268441.1:n.209+7A>G