Canonical Allele Identifier: CA346092960

Gene: HADHB

Linked Data

• ClinVar Variation Id: 1494677
• ClinVar RCV Id: RCV001989526
• dbSNP Id: rs987203346
• gnomAD v2: 2-26502066-G-T
• gnomAD v4: 2-26279198-G-T
• COSMIC: COSM720732
• MyVariant Identifiers: chr2:g.26502066G>T (hg19) ; chr2:g.26279198G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26279198G>T , CM000664.2:g.26279198G>T	GRCh38
NC_000002.11:g.26502066G>T , CM000664.1:g.26502066G>T	GRCh37
NC_000002.10:g.26355570G>T	NCBI36
NG_007294.1:g.39246G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000317799.10:c.694G>T MANE Select	ENSP00000325136.5:p.Ala232Ser
ENST00000317799.9:c.694G>T	ENSP00000325136.5:p.Ala232Ser
ENST00000405867.7:c.443-796G>T	ENSP00000385411.3:n.443-796G>T
ENST00000494615.1:n.1641G>T
ENST00000537713.5:c.649G>T	ENSP00000444295.1:p.Ala217Ser
ENST00000545822.2:c.628G>T	ENSP00000442665.1:p.Ala210Ser
NM_000183.2:c.694G>T	NP_000174.1:p.Ala232Ser
NM_001281512.1:c.649G>T	NP_001268441.1:p.Ala217Ser
NM_001281513.1:c.628G>T	NP_001268442.1:p.Ala210Ser
XM_011532803.1:c.694G>T	XP_011531105.1:p.Ala232Ser
XM_011532804.1:c.628G>T	XP_011531106.1:p.Ala210Ser
XM_024452830.1:c.664G>T	XP_024308598.1:p.Ala222Ser
XM_024452831.1:c.628G>T	XP_024308599.1:p.Ala210Ser
NM_000183.3:c.694G>T MANE Select	NP_000174.1:p.Ala232Ser
NM_001281513.2:c.628G>T	NP_001268442.1:p.Ala210Ser
NM_001281512.2:c.649G>T	NP_001268441.1:p.Ala217Ser