Canonical Allele Identifier: CA10586171

Gene: HADHB

Linked Data

• ClinVar Variation Id: 253052
• ClinVar RCV Id: RCV000239550 ; RCV000789677
• dbSNP Id: rs200777054
• MyVariant Identifiers: chr2:g.26492820G>C (hg19) ; chr2:g.26269952G>C (hg38)
• PubMed: PMID:24314034

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26269952G>C , CM000664.2:g.26269952G>C	GRCh38
NC_000002.11:g.26492820G>C , CM000664.1:g.26492820G>C	GRCh37
NC_000002.10:g.26346324G>C	NCBI36
NG_007294.1:g.30000G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317799.10:c.210-1G>C MANE Select	ENSP00000325136.5:n.210-1G>C
ENST00000317799.9:c.210-1G>C	ENSP00000325136.5:n.210-1G>C
ENST00000405867.7:c.210-1G>C	ENSP00000385411.3:n.210-1G>C
ENST00000412805.5:c.210-1G>C	ENSP00000413103.1:n.210-1G>C
ENST00000425035.5:c.210-1G>C	ENSP00000404633.1:n.210-1G>C
ENST00000448743.5:c.210-1G>C	ENSP00000415300.1:n.210-1G>C
ENST00000494615.1:n.1157-1G>C
ENST00000537713.5:c.210-3699G>C	ENSP00000444295.1:n.210-3699G>C
ENST00000545822.2:c.144-1G>C	ENSP00000442665.1:n.144-1G>C
NM_000183.2:c.210-1G>C	NP_000174.1:n.210-1G>C
NM_001281512.1:c.210-3699G>C	NP_001268441.1:n.210-3699G>C
NM_001281513.1:c.144-1G>C	NP_001268442.1:n.144-1G>C
XM_011532803.1:c.210-1G>C	XP_011531105.1:n.210-1G>C
XM_011532804.1:c.144-1G>C	XP_011531106.1:n.144-1G>C
XM_024452830.1:c.180-1G>C	XP_024308598.1:n.180-1G>C
XM_024452831.1:c.144-1G>C	XP_024308599.1:n.144-1G>C
NM_000183.3:c.210-1G>C MANE Select	NP_000174.1:n.210-1G>C
NM_001281513.2:c.144-1G>C	NP_001268442.1:n.144-1G>C
NM_001281512.2:c.210-3699G>C	NP_001268441.1:n.210-3699G>C