Canonical Allele Identifier: CA324671975
Gene: CYP2D6 HGNC NCBI

Linked Data

dbSNP Id: rs72549354
gnomAD v4: 22-42128814-T-TC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.42128817dup , CM000684.2:g.42128817dup GRCh38
NC_000022.10:g.42524819dup , CM000684.1:g.42524819dup GRCh37
NC_000022.9:g.40854763dup NCBI36
NG_008376.3:g.6177dup
NG_008376.4:g.6996dup

Transcript Alleles

HGVS Amino-acid change
ENST00000360124.10:c.482dup ENSP00000353241.6:p.Leu162ThrfsTer?
ENST00000645361.2:c.635dup MANE Select ENSP00000496150.1:p.Leu213ThrfsTer?
ENST00000359033.4:c.482dup ENSP00000351927.4:p.Leu162ThrfsTer?
ENST00000360124.9:c.302dup ENSP00000353241.5:p.Leu102ThrfsTer?
ENST00000360608.9:c.635dup ENSP00000353820.5:p.Leu213ThrfsTer?
ENST00000389970.7:c.569dup ENSP00000374620.4:p.Leu191ThrfsTer?
ENST00000488442.1:n.1359dup
NM_000106.5:c.635dup NP_000097.3:p.Leu213ThrfsTer?
NM_001025161.2:c.482dup NP_001020332.2:p.Leu162ThrfsTer?
XM_011529966.1:c.635dup XP_011528268.1:p.Leu213ThrfsTer?
XM_011529967.1:c.635dup XP_011528269.1:p.Leu213ThrfsTer?
XM_011529968.1:c.635dup XP_011528270.1:p.Leu213ThrfsTer?
XM_011529969.1:c.491dup XP_011528271.1:p.Leu165ThrfsTer?
XM_011529970.1:c.482dup XP_011528272.1:p.Leu162ThrfsTer?
XM_011529971.1:c.491dup XP_011528273.1:p.Leu165ThrfsTer?
XM_011529972.1:c.635dup XP_011528274.1:p.Leu213ThrfsTer?
NM_000106.6:c.635dup MANE Select NP_000097.3:p.Leu213ThrfsTer?
NM_001025161.3:c.482dup NP_001020332.2:p.Leu162ThrfsTer?
Search 100 bp 5'
Search 100 bp 3'