Canonical Allele Identifier: CA1560060

Gene: HADHB

Linked Data

• ClinVar Variation Id: 335401
• ClinVar RCV Id: RCV000307078 ; RCV000428305 ; RCV003957732
• dbSNP Id: rs57709136
• ExAC: 2:26477197 T / C
• gnomAD v2: 2-26477197-T-C
• gnomAD v3: 2-26254329-T-C
• gnomAD v4: 2-26254329-T-C
• MyVariant Identifiers: chr2:g.26477197T>C (hg19) ; chr2:g.26254329T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26254329T>C , CM000664.2:g.26254329T>C	GRCh38
NC_000002.11:g.26477197T>C , CM000664.1:g.26477197T>C	GRCh37
NC_000002.10:g.26330701T>C	NCBI36
NG_007294.1:g.14377T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317799.10:c.64+11T>C MANE Select	ENSP00000325136.5:n.64+11T>C
ENST00000317799.9:c.64+11T>C	ENSP00000325136.5:n.64+11T>C
ENST00000405867.7:c.64+11T>C	ENSP00000385411.3:n.64+11T>C
ENST00000412805.5:c.64+11T>C	ENSP00000413103.1:n.64+11T>C
ENST00000425035.5:c.64+11T>C	ENSP00000404633.1:n.64+11T>C
ENST00000448743.5:c.64+11T>C	ENSP00000415300.1:n.64+11T>C
ENST00000479347.1:n.143+11T>C
ENST00000537713.5:c.64+11T>C	ENSP00000444295.1:n.64+11T>C
NM_000183.2:c.64+11T>C	NP_000174.1:n.64+11T>C
NM_001281512.1:c.64+11T>C	NP_001268441.1:n.64+11T>C
NM_001281513.1:c.-86+11T>C	NP_001268442.1:n.-86+11T>C
XM_011532803.1:c.64+11T>C	XP_011531105.1:n.64+11T>C
XM_024452830.1:c.17+11T>C	XP_024308598.1:n.17+11T>C
XM_024452831.1:c.-103+11T>C	XP_024308599.1:n.-103+11T>C
NM_000183.3:c.64+11T>C MANE Select	NP_000174.1:n.64+11T>C
NM_001281513.2:c.-86+11T>C	NP_001268442.1:n.-86+11T>C
NM_001281512.2:c.64+11T>C	NP_001268441.1:n.64+11T>C