Canonical Allele Identifier: CA411773916
Gene: CYP2D6 HGNC NCBI

Linked Data

ClinVar Variation Id: 2485653
ClinVar RCV Id: RCV003205448
dbSNP Id: rs768664932
gnomAD v4: 22-42128852-G-A
MyVariant Identifiers: chr22:g.42524854G>A (hg19) chr22:g.42128852G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.42128852G>A , CM000684.2:g.42128852G>A GRCh38
NC_000022.10:g.42524854G>A , CM000684.1:g.42524854G>A GRCh37
NC_000022.9:g.40854798G>A NCBI36
NG_008376.3:g.6140C>T
NG_008376.4:g.6959C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000360124.10:c.445C>T ENSP00000353241.6:p.Pro149Ser
ENST00000645361.2:c.598C>T MANE Select ENSP00000496150.1:p.Pro200Ser
ENST00000359033.4:c.445C>T ENSP00000351927.4:p.Pro149Ser
ENST00000360124.9:c.265C>T ENSP00000353241.5:p.Pro89Ser
ENST00000360608.9:c.598C>T ENSP00000353820.5:p.Pro200Ser
ENST00000389970.7:c.532C>T ENSP00000374620.4:p.Pro178Ser
ENST00000488442.1:n.1322C>T
NM_000106.5:c.598C>T NP_000097.3:p.Pro200Ser
NM_001025161.2:c.445C>T NP_001020332.2:p.Pro149Ser
XM_011529966.1:c.598C>T XP_011528268.1:p.Pro200Ser
XM_011529967.1:c.598C>T XP_011528269.1:p.Pro200Ser
XM_011529968.1:c.598C>T XP_011528270.1:p.Pro200Ser
XM_011529969.1:c.454C>T XP_011528271.1:p.Pro152Ser
XM_011529970.1:c.445C>T XP_011528272.1:p.Pro149Ser
XM_011529971.1:c.454C>T XP_011528273.1:p.Pro152Ser
XM_011529972.1:c.598C>T XP_011528274.1:p.Pro200Ser
NM_000106.6:c.598C>T MANE Select NP_000097.3:p.Pro200Ser
NM_001025161.3:c.445C>T NP_001020332.2:p.Pro149Ser
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