Canonical Allele Identifier: CA425200761

Gene: HADHB

Linked Data

• MyVariant Identifiers: chr2:g.26502062G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26279194G>A , CM000664.2:g.26279194G>A	GRCh38
NC_000002.11:g.26502062G>A , CM000664.1:g.26502062G>A	GRCh37
NC_000002.10:g.26355566G>A	NCBI36
NG_007294.1:g.39242G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000317799.10:c.690G>A MANE Select	ENSP00000325136.5:p.Leu230=
ENST00000317799.9:c.690G>A	ENSP00000325136.5:p.Leu230=
ENST00000405867.7:c.443-800G>A	ENSP00000385411.3:n.443-800G>A
ENST00000494615.1:n.1637G>A
ENST00000537713.5:c.645G>A	ENSP00000444295.1:p.Leu215=
ENST00000545822.2:c.624G>A	ENSP00000442665.1:p.Leu208=
NM_000183.2:c.690G>A	NP_000174.1:p.Leu230=
NM_001281512.1:c.645G>A	NP_001268441.1:p.Leu215=
NM_001281513.1:c.624G>A	NP_001268442.1:p.Leu208=
XM_011532803.1:c.690G>A	XP_011531105.1:p.Leu230=
XM_011532804.1:c.624G>A	XP_011531106.1:p.Leu208=
XM_024452830.1:c.660G>A	XP_024308598.1:p.Leu220=
XM_024452831.1:c.624G>A	XP_024308599.1:p.Leu208=
NM_000183.3:c.690G>A MANE Select	NP_000174.1:p.Leu230=
NM_001281513.2:c.624G>A	NP_001268442.1:p.Leu208=
NM_001281512.2:c.645G>A	NP_001268441.1:p.Leu215=