Canonical Allele Identifier: CA514800427
Gene: CYP2D6 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.42523905C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.42127903C>A , CM000684.2:g.42127903C>A GRCh38
NC_000022.10:g.42523905C>A , CM000684.1:g.42523905C>A GRCh37
NC_000022.9:g.40853849C>A NCBI36
NG_008376.3:g.7089G>T
NG_008376.4:g.7908G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000360124.10:c.722G>T ENSP00000353241.6:p.Ter241Leu
ENST00000645361.2:c.924G>T MANE Select ENSP00000496150.1:p.Val308=
ENST00000359033.4:c.771G>T ENSP00000351927.4:p.Val257=
ENST00000360124.9:c.542G>T ENSP00000353241.5:p.Ter181Leu
ENST00000360608.9:c.924G>T ENSP00000353820.5:p.Val308=
ENST00000389970.7:c.858G>T ENSP00000374620.4:p.Val286=
ENST00000488442.1:n.1648G>T
NM_000106.5:c.924G>T NP_000097.3:p.Val308=
NM_001025161.2:c.771G>T NP_001020332.2:p.Val257=
XM_011529966.1:c.924G>T XP_011528268.1:p.Val308=
XM_011529967.1:c.924G>T XP_011528269.1:p.Val308=
XM_011529968.1:c.924G>T XP_011528270.1:p.Val308=
XM_011529969.1:c.780G>T XP_011528271.1:p.Val260=
XM_011529970.1:c.771G>T XP_011528272.1:p.Val257=
XM_011529971.1:c.780G>T XP_011528273.1:p.Val260=
XM_011529972.1:c.844-269G>T XP_011528274.1:n.844-269G>T
NM_000106.6:c.924G>T MANE Select NP_000097.3:p.Val308=
NM_001025161.3:c.771G>T NP_001020332.2:p.Val257=