Canonical Allele Identifier: CA10264659
Gene: CYP2D6 HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.42127545C>T , CM000684.2:g.42127545C>T GRCh38
NC_000022.10:g.42523547C>T , CM000684.1:g.42523547C>T GRCh37
NC_000022.9:g.40853491C>T NCBI36
NG_008376.3:g.7447G>A
NG_008376.4:g.8266G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000360124.10:c.873G>A ENSP00000353241.6:n.873G>A
ENST00000645361.2:c.1075G>A MANE Select ENSP00000496150.1:p.Val359Met
ENST00000359033.4:c.922G>A ENSP00000351927.4:p.Val308Met
ENST00000360124.9:c.693G>A ENSP00000353241.5:n.693G>A
ENST00000360608.9:c.1075G>A ENSP00000353820.5:p.Val359Met
ENST00000389970.7:c.1066G>A ENSP00000374620.4:p.Val356Met
ENST00000488442.1:n.1799G>A
NM_000106.5:c.1075G>A NP_000097.3:p.Val359Met
NM_001025161.2:c.922G>A NP_001020332.2:p.Val308Met
XM_011529966.1:c.1075G>A XP_011528268.1:p.Val359Met
XM_011529967.1:c.1075G>A XP_011528269.1:p.Val359Met
XM_011529968.1:c.1075G>A XP_011528270.1:p.Val359Met
XM_011529969.1:c.931G>A XP_011528271.1:p.Val311Met
XM_011529970.1:c.922G>A XP_011528272.1:p.Val308Met
XM_011529971.1:c.931G>A XP_011528273.1:p.Val311Met
XM_011529972.1:c.*60G>A XP_011528274.1:n.*60G>A
NM_000106.6:c.1075G>A MANE Select NP_000097.3:p.Val359Met
NM_001025161.3:c.922G>A NP_001020332.2:p.Val308Met