Canonical Allele Identifier: CA346094782

Gene: HADHB

Linked Data

• MyVariant Identifiers: chr2:g.26505876T>G (hg19) ; chr2:g.26283008T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26283008T>G , CM000664.2:g.26283008T>G	GRCh38
NC_000002.11:g.26505876T>G , CM000664.1:g.26505876T>G	GRCh37
NC_000002.10:g.26359380T>G	NCBI36
NG_007294.1:g.43056T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317799.10:c.1018T>G MANE Select	ENSP00000325136.5:p.Phe340Val
ENST00000317799.9:c.1018T>G	ENSP00000325136.5:p.Phe340Val
ENST00000405867.7:c.649T>G	ENSP00000385411.3:p.Phe217Val
ENST00000494615.1:n.1965T>G
ENST00000537713.5:c.973T>G	ENSP00000444295.1:p.Phe325Val
ENST00000545822.2:c.952T>G	ENSP00000442665.1:p.Phe318Val
NM_000183.2:c.1018T>G	NP_000174.1:p.Phe340Val
NM_001281512.1:c.973T>G	NP_001268441.1:p.Phe325Val
NM_001281513.1:c.952T>G	NP_001268442.1:p.Phe318Val
XM_011532803.1:c.1018T>G	XP_011531105.1:p.Phe340Val
XM_011532804.1:c.952T>G	XP_011531106.1:p.Phe318Val
XM_024452830.1:c.988T>G	XP_024308598.1:p.Phe330Val
XM_024452831.1:c.952T>G	XP_024308599.1:p.Phe318Val
NM_000183.3:c.1018T>G MANE Select	NP_000174.1:p.Phe340Val
NM_001281513.2:c.952T>G	NP_001268442.1:p.Phe318Val
NM_001281512.2:c.973T>G	NP_001268441.1:p.Phe325Val