Canonical Allele Identifier: CA346092950

Gene: HADHB

Linked Data

• gnomAD v4: 2-26279192-C-G
• MyVariant Identifiers: chr2:g.26502060C>G (hg19) ; chr2:g.26279192C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26279192C>G , CM000664.2:g.26279192C>G	GRCh38
NC_000002.11:g.26502060C>G , CM000664.1:g.26502060C>G	GRCh37
NC_000002.10:g.26355564C>G	NCBI36
NG_007294.1:g.39240C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000317799.10:c.688C>G MANE Select	ENSP00000325136.5:p.Leu230Val
ENST00000317799.9:c.688C>G	ENSP00000325136.5:p.Leu230Val
ENST00000405867.7:c.443-802C>G	ENSP00000385411.3:n.443-802C>G
ENST00000494615.1:n.1635C>G
ENST00000537713.5:c.643C>G	ENSP00000444295.1:p.Leu215Val
ENST00000545822.2:c.622C>G	ENSP00000442665.1:p.Leu208Val
NM_000183.2:c.688C>G	NP_000174.1:p.Leu230Val
NM_001281512.1:c.643C>G	NP_001268441.1:p.Leu215Val
NM_001281513.1:c.622C>G	NP_001268442.1:p.Leu208Val
XM_011532803.1:c.688C>G	XP_011531105.1:p.Leu230Val
XM_011532804.1:c.622C>G	XP_011531106.1:p.Leu208Val
XM_024452830.1:c.658C>G	XP_024308598.1:p.Leu220Val
XM_024452831.1:c.622C>G	XP_024308599.1:p.Leu208Val
NM_000183.3:c.688C>G MANE Select	NP_000174.1:p.Leu230Val
NM_001281513.2:c.622C>G	NP_001268442.1:p.Leu208Val
NM_001281512.2:c.643C>G	NP_001268441.1:p.Leu215Val