Canonical Allele Identifier: CA1560317

Gene: HADHB

Linked Data

• ClinVar Variation Id: 1541941
• ClinVar RCV Id: RCV002164843
• dbSNP Id: rs768034989
• ExAC: 2:26502065 C / T
• gnomAD v2: 2-26502065-C-T
• gnomAD v3: 2-26279197-C-T
• gnomAD v4: 2-26279197-C-T
• MyVariant Identifiers: chr2:g.26502065C>T (hg19) ; chr2:g.26279197C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26279197C>T , CM000664.2:g.26279197C>T	GRCh38
NC_000002.11:g.26502065C>T , CM000664.1:g.26502065C>T	GRCh37
NC_000002.10:g.26355569C>T	NCBI36
NG_007294.1:g.39245C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000317799.10:c.693C>T MANE Select	ENSP00000325136.5:p.Ala231=
ENST00000317799.9:c.693C>T	ENSP00000325136.5:p.Ala231=
ENST00000405867.7:c.443-797C>T	ENSP00000385411.3:n.443-797C>T
ENST00000494615.1:n.1640C>T
ENST00000537713.5:c.648C>T	ENSP00000444295.1:p.Ala216=
ENST00000545822.2:c.627C>T	ENSP00000442665.1:p.Ala209=
NM_000183.2:c.693C>T	NP_000174.1:p.Ala231=
NM_001281512.1:c.648C>T	NP_001268441.1:p.Ala216=
NM_001281513.1:c.627C>T	NP_001268442.1:p.Ala209=
XM_011532803.1:c.693C>T	XP_011531105.1:p.Ala231=
XM_011532804.1:c.627C>T	XP_011531106.1:p.Ala209=
XM_024452830.1:c.663C>T	XP_024308598.1:p.Ala221=
XM_024452831.1:c.627C>T	XP_024308599.1:p.Ala209=
NM_000183.3:c.693C>T MANE Select	NP_000174.1:p.Ala231=
NM_001281513.2:c.627C>T	NP_001268442.1:p.Ala209=
NM_001281512.2:c.648C>T	NP_001268441.1:p.Ala216=