Canonical Allele Identifier: CA411772799
Gene: CYP2D6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.42127949T>G , CM000684.2:g.42127949T>G GRCh38
NC_000022.10:g.42523951T>G , CM000684.1:g.42523951T>G GRCh37
NC_000022.9:g.40853895T>G NCBI36
NG_008376.3:g.7043A>C
NG_008376.4:g.7862A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000360124.10:c.691-15A>C ENSP00000353241.6:n.691-15A>C
ENST00000645361.2:c.878A>C MANE Select ENSP00000496150.1:p.Glu293Ala
ENST00000359033.4:c.725A>C ENSP00000351927.4:p.Glu242Ala
ENST00000360124.9:c.511-15A>C ENSP00000353241.5:n.511-15A>C
ENST00000360608.9:c.878A>C ENSP00000353820.5:p.Glu293Ala
ENST00000389970.7:c.812A>C ENSP00000374620.4:p.Glu271Ala
ENST00000488442.1:n.1602A>C
NM_000106.5:c.878A>C NP_000097.3:p.Glu293Ala
NM_001025161.2:c.725A>C NP_001020332.2:p.Glu242Ala
XM_011529966.1:c.878A>C XP_011528268.1:p.Glu293Ala
XM_011529967.1:c.878A>C XP_011528269.1:p.Glu293Ala
XM_011529968.1:c.878A>C XP_011528270.1:p.Glu293Ala
XM_011529969.1:c.734A>C XP_011528271.1:p.Glu245Ala
XM_011529970.1:c.725A>C XP_011528272.1:p.Glu242Ala
XM_011529971.1:c.734A>C XP_011528273.1:p.Glu245Ala
XM_011529972.1:c.843+225A>C XP_011528274.1:n.843+225A>C
NM_000106.6:c.878A>C MANE Select NP_000097.3:p.Glu293Ala
NM_001025161.3:c.725A>C NP_001020332.2:p.Glu242Ala