Canonical Allele Identifier: CA346096242

Gene: HADHB

Linked Data

• gnomAD v4: 2-26285425-G-A
• MyVariant Identifiers: chr2:g.26508293G>A (hg19) ; chr2:g.26285425G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26285425G>A , CM000664.2:g.26285425G>A	GRCh38
NC_000002.11:g.26508293G>A , CM000664.1:g.26508293G>A	GRCh37
NC_000002.10:g.26361797G>A	NCBI36
NG_007294.1:g.45473G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317799.10:c.1243G>A MANE Select	ENSP00000325136.5:p.Glu415Lys
ENST00000317799.9:c.1243G>A	ENSP00000325136.5:p.Glu415Lys
ENST00000405867.7:c.874G>A	ENSP00000385411.3:p.Glu292Lys
ENST00000494615.1:n.2190G>A
ENST00000537713.5:c.1198G>A	ENSP00000444295.1:p.Glu400Lys
ENST00000545822.2:c.1177G>A	ENSP00000442665.1:p.Glu393Lys
NM_000183.2:c.1243G>A	NP_000174.1:p.Glu415Lys
NM_001281512.1:c.1198G>A	NP_001268441.1:p.Glu400Lys
NM_001281513.1:c.1177G>A	NP_001268442.1:p.Glu393Lys
XM_011532803.1:c.1243G>A	XP_011531105.1:p.Glu415Lys
XM_011532804.1:c.1177G>A	XP_011531106.1:p.Glu393Lys
XM_024452830.1:c.1213G>A	XP_024308598.1:p.Glu405Lys
XM_024452831.1:c.1177G>A	XP_024308599.1:p.Glu393Lys
NM_000183.3:c.1243G>A MANE Select	NP_000174.1:p.Glu415Lys
NM_001281513.2:c.1177G>A	NP_001268442.1:p.Glu393Lys
NM_001281512.2:c.1198G>A	NP_001268441.1:p.Glu400Lys