Canonical Allele Identifier: CA425202161

Gene: HADHB

Linked Data

• MyVariant Identifiers: chr2:g.26508383T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26285515T>C , CM000664.2:g.26285515T>C	GRCh38
NC_000002.11:g.26508383T>C , CM000664.1:g.26508383T>C	GRCh37
NC_000002.10:g.26361887T>C	NCBI36
NG_007294.1:g.45563T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000317799.10:c.1333T>C MANE Select	ENSP00000325136.5:p.Leu445=
ENST00000317799.9:c.1333T>C	ENSP00000325136.5:p.Leu445=
ENST00000405867.7:c.964T>C	ENSP00000385411.3:p.Leu322=
ENST00000494615.1:n.2280T>C
ENST00000537713.5:c.1288T>C	ENSP00000444295.1:p.Leu430=
ENST00000545822.2:c.1267T>C	ENSP00000442665.1:p.Leu423=
NM_000183.2:c.1333T>C	NP_000174.1:p.Leu445=
NM_001281512.1:c.1288T>C	NP_001268441.1:p.Leu430=
NM_001281513.1:c.1267T>C	NP_001268442.1:p.Leu423=
XM_011532803.1:c.1333T>C	XP_011531105.1:p.Leu445=
XM_011532804.1:c.1267T>C	XP_011531106.1:p.Leu423=
XM_024452830.1:c.1303T>C	XP_024308598.1:p.Leu435=
XM_024452831.1:c.1267T>C	XP_024308599.1:p.Leu423=
NM_000183.3:c.1333T>C MANE Select	NP_000174.1:p.Leu445=
NM_001281513.2:c.1267T>C	NP_001268442.1:p.Leu423=
NM_001281512.2:c.1288T>C	NP_001268441.1:p.Leu430=