Canonical Allele Identifier: CA346092949

Gene: HADHB

Linked Data

• MyVariant Identifiers: chr2:g.26502060C>A (hg19) ; chr2:g.26279192C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317799.10:c.688C>A MANE Select	ENSP00000325136.5:p.Leu230Met
ENST00000317799.9:c.688C>A	ENSP00000325136.5:p.Leu230Met
ENST00000405867.7:c.443-802C>A	ENSP00000385411.3:n.443-802C>A
ENST00000494615.1:n.1635C>A
ENST00000537713.5:c.643C>A	ENSP00000444295.1:p.Leu215Met
ENST00000545822.2:c.622C>A	ENSP00000442665.1:p.Leu208Met
NM_000183.2:c.688C>A	NP_000174.1:p.Leu230Met
NM_001281512.1:c.643C>A	NP_001268441.1:p.Leu215Met
NM_001281513.1:c.622C>A	NP_001268442.1:p.Leu208Met
XM_011532803.1:c.688C>A	XP_011531105.1:p.Leu230Met
XM_011532804.1:c.622C>A	XP_011531106.1:p.Leu208Met
XM_024452830.1:c.658C>A	XP_024308598.1:p.Leu220Met
XM_024452831.1:c.622C>A	XP_024308599.1:p.Leu208Met
NM_000183.3:c.688C>A MANE Select	NP_000174.1:p.Leu230Met
NM_001281513.2:c.622C>A	NP_001268442.1:p.Leu208Met
NM_001281512.2:c.643C>A	NP_001268441.1:p.Leu215Met