Canonical Allele Identifier: CA346096263

Gene: HADHB

Linked Data

• dbSNP Id: rs762490580
• gnomAD v3: 2-26285433-T-A
• gnomAD v4: 2-26285433-T-A
• MyVariant Identifiers: chr2:g.26508301T>A (hg19) ; chr2:g.26285433T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26285433T>A , CM000664.2:g.26285433T>A	GRCh38
NC_000002.11:g.26508301T>A , CM000664.1:g.26508301T>A	GRCh37
NC_000002.10:g.26361805T>A	NCBI36
NG_007294.1:g.45481T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317799.10:c.1251T>A MANE Select	ENSP00000325136.5:p.Phe417Leu
ENST00000317799.9:c.1251T>A	ENSP00000325136.5:p.Phe417Leu
ENST00000405867.7:c.882T>A	ENSP00000385411.3:p.Phe294Leu
ENST00000494615.1:n.2198T>A
ENST00000537713.5:c.1206T>A	ENSP00000444295.1:p.Phe402Leu
ENST00000545822.2:c.1185T>A	ENSP00000442665.1:p.Phe395Leu
NM_000183.2:c.1251T>A	NP_000174.1:p.Phe417Leu
NM_001281512.1:c.1206T>A	NP_001268441.1:p.Phe402Leu
NM_001281513.1:c.1185T>A	NP_001268442.1:p.Phe395Leu
XM_011532803.1:c.1251T>A	XP_011531105.1:p.Phe417Leu
XM_011532804.1:c.1185T>A	XP_011531106.1:p.Phe395Leu
XM_024452830.1:c.1221T>A	XP_024308598.1:p.Phe407Leu
XM_024452831.1:c.1185T>A	XP_024308599.1:p.Phe395Leu
NM_000183.3:c.1251T>A MANE Select	NP_000174.1:p.Phe417Leu
NM_001281513.2:c.1185T>A	NP_001268442.1:p.Phe395Leu
NM_001281512.2:c.1206T>A	NP_001268441.1:p.Phe402Leu