Canonical Allele Identifier: CA531394635

Gene: HADHB

Linked Data

• dbSNP Id: rs769558124
• gnomAD v2: 2-26505874-A-AT
• gnomAD v4: 2-26283006-A-AT
• MyVariant Identifiers: chr2:g.26505875_26505876insT (hg19) ; chr2:g.26283007_26283008insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26283010dup , CM000664.2:g.26283010dup	GRCh38
NC_000002.11:g.26505878dup , CM000664.1:g.26505878dup	GRCh37
NC_000002.10:g.26359382dup	NCBI36
NG_007294.1:g.43058dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317799.10:c.1020dup MANE Select	ENSP00000325136.5:p.Met341TyrfsTer?
ENST00000317799.9:c.1020dup	ENSP00000325136.5:p.Met341TyrfsTer?
ENST00000405867.7:c.651dup	ENSP00000385411.3:p.Met218TyrfsTer?
ENST00000494615.1:n.1967dup
ENST00000537713.5:c.975dup	ENSP00000444295.1:p.Met326TyrfsTer?
ENST00000545822.2:c.954dup	ENSP00000442665.1:p.Met319TyrfsTer?
NM_000183.2:c.1020dup	NP_000174.1:p.Met341TyrfsTer?
NM_001281512.1:c.975dup	NP_001268441.1:p.Met326TyrfsTer?
NM_001281513.1:c.954dup	NP_001268442.1:p.Met319TyrfsTer?
XM_011532803.1:c.1020dup	XP_011531105.1:p.Met341TyrfsTer?
XM_011532804.1:c.954dup	XP_011531106.1:p.Met319TyrfsTer?
XM_024452830.1:c.990dup	XP_024308598.1:p.Met331TyrfsTer?
XM_024452831.1:c.954dup	XP_024308599.1:p.Met319TyrfsTer?
NM_000183.3:c.1020dup MANE Select	NP_000174.1:p.Met341TyrfsTer?
NM_001281513.2:c.954dup	NP_001268442.1:p.Met319TyrfsTer?
NM_001281512.2:c.975dup	NP_001268441.1:p.Met326TyrfsTer?