Canonical Allele Identifier: CA531394615

Gene: HADHB

Linked Data

• dbSNP Id: rs1392213669
• gnomAD v2: 2-26505832-A-G
• gnomAD v4: 2-26282964-A-G
• MyVariant Identifiers: chr2:g.26505832A>G (hg19) ; chr2:g.26282964A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26282964A>G , CM000664.2:g.26282964A>G	GRCh38
NC_000002.11:g.26505832A>G , CM000664.1:g.26505832A>G	GRCh37
NC_000002.10:g.26359336A>G	NCBI36
NG_007294.1:g.43012A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317799.10:c.1014-40A>G MANE Select	ENSP00000325136.5:n.1014-40A>G
ENST00000317799.9:c.1014-40A>G	ENSP00000325136.5:n.1014-40A>G
ENST00000405867.7:c.645-40A>G	ENSP00000385411.3:n.645-40A>G
ENST00000494615.1:n.1961-40A>G
ENST00000537713.5:c.969-40A>G	ENSP00000444295.1:n.969-40A>G
ENST00000545822.2:c.948-40A>G	ENSP00000442665.1:n.948-40A>G
NM_000183.2:c.1014-40A>G	NP_000174.1:n.1014-40A>G
NM_001281512.1:c.969-40A>G	NP_001268441.1:n.969-40A>G
NM_001281513.1:c.948-40A>G	NP_001268442.1:n.948-40A>G
XM_011532803.1:c.1014-40A>G	XP_011531105.1:n.1014-40A>G
XM_011532804.1:c.948-40A>G	XP_011531106.1:n.948-40A>G
XM_024452830.1:c.984-40A>G	XP_024308598.1:n.984-40A>G
XM_024452831.1:c.948-40A>G	XP_024308599.1:n.948-40A>G
NM_000183.3:c.1014-40A>G MANE Select	NP_000174.1:n.1014-40A>G
NM_001281513.2:c.948-40A>G	NP_001268442.1:n.948-40A>G
NM_001281512.2:c.969-40A>G	NP_001268441.1:n.969-40A>G