Canonical Allele Identifier: CA658657012

Gene: HADHB

Linked Data

• ClinVar Variation Id: 450899
• ClinVar RCV Id: RCV000521011 ; RCV002527617
• dbSNP Id: rs1484394551
• gnomAD v3: 2-26285578-T-TA
• gnomAD v4: 2-26285578-T-TA
• MyVariant Identifiers: chr2:g.26508447dup (hg19) ; chr2:g.26508446_26508447insA (hg19) ; chr2:g.26285579dup (hg38) ; chr2:g.26285578_26285579insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26285579dup , CM000664.2:g.26285579dup	GRCh38
NC_000002.11:g.26508447dup , CM000664.1:g.26508447dup	GRCh37
NC_000002.10:g.26361951dup	NCBI36
NG_007294.1:g.45627dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317799.10:c.1389+8dup MANE Select	ENSP00000325136.5:n.1389+8dup
ENST00000317799.9:c.1389+8dup	ENSP00000325136.5:n.1389+8dup
ENST00000405867.7:c.1020+8dup	ENSP00000385411.3:n.1020+8dup
ENST00000494615.1:n.2336+8dup
ENST00000537713.5:c.1344+8dup	ENSP00000444295.1:n.1344+8dup
ENST00000545822.2:c.1323+8dup	ENSP00000442665.1:n.1323+8dup
NM_000183.2:c.1389+8dup	NP_000174.1:n.1389+8dup
NM_001281512.1:c.1344+8dup	NP_001268441.1:n.1344+8dup
NM_001281513.1:c.1323+8dup	NP_001268442.1:n.1323+8dup
XM_011532803.1:c.1389+8dup	XP_011531105.1:n.1389+8dup
XM_011532804.1:c.1323+8dup	XP_011531106.1:n.1323+8dup
XM_024452830.1:c.1359+8dup	XP_024308598.1:n.1359+8dup
XM_024452831.1:c.1323+8dup	XP_024308599.1:n.1323+8dup
NM_000183.3:c.1389+8dup MANE Select	NP_000174.1:n.1389+8dup
NM_001281513.2:c.1323+8dup	NP_001268442.1:n.1323+8dup
NM_001281512.2:c.1344+8dup	NP_001268441.1:n.1344+8dup