Canonical Allele Identifier: CA324664501

Gene: CYP2D6

Linked Data

• dbSNP Id: rs28371736
• gnomAD v3: 22-42126619-G-A
• gnomAD v4: 22-42126619-G-A
• COSMIC: COSM1416597 ; COSM1416598
• MyVariant Identifiers: chr22:g.42522621G>A (hg19) ; chr22:g.42126619G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42126619G>A , CM000684.2:g.42126619G>A	GRCh38
NC_000022.10:g.42522621G>A , CM000684.1:g.42522621G>A	GRCh37
NC_000022.9:g.40852565G>A	NCBI36
NG_008376.3:g.8373C>T
NG_008376.4:g.9192C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000360124.10:c.1247C>T	ENSP00000353241.6:n.1247C>T
ENST00000645361.2:c.1449C>T MANE Select	ENSP00000496150.1:p.Phe483=
ENST00000359033.4:c.1296C>T	ENSP00000351927.4:p.Phe432=
ENST00000360124.9:c.1067C>T	ENSP00000353241.5:n.1067C>T
ENST00000360608.9:c.1449C>T	ENSP00000353820.5:p.Phe483=
ENST00000389970.7:c.1440C>T	ENSP00000374620.4:p.Phe480=
ENST00000488442.1:n.2173C>T
NM_000106.5:c.1449C>T	NP_000097.3:p.Phe483=
NM_001025161.2:c.1296C>T	NP_001020332.2:p.Phe432=
XM_011529966.1:c.1449C>T	XP_011528268.1:p.Phe483=
XM_011529967.1:c.1449C>T	XP_011528269.1:p.Phe483=
XM_011529968.1:c.1449C>T	XP_011528270.1:p.Phe483=
XM_011529969.1:c.1305C>T	XP_011528271.1:p.Phe435=
XM_011529970.1:c.1296C>T	XP_011528272.1:p.Phe432=
XM_011529971.1:c.1305C>T	XP_011528273.1:p.Phe435=
NM_000106.6:c.1449C>T MANE Select	NP_000097.3:p.Phe483=
NM_001025161.3:c.1296C>T	NP_001020332.2:p.Phe432=