Canonical Allele Identifier: CA10264638
Gene: CYP2D6 HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.42127500C>T , CM000684.2:g.42127500C>T GRCh38
NC_000022.10:g.42523502C>T , CM000684.1:g.42523502C>T GRCh37
NC_000022.9:g.40853446C>T NCBI36
NG_008376.3:g.7492G>A
NG_008376.4:g.8311G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000360124.10:c.918G>A ENSP00000353241.6:n.918G>A
ENST00000645361.2:c.1120G>A MANE Select ENSP00000496150.1:p.Val374Met
ENST00000359033.4:c.967G>A ENSP00000351927.4:p.Val323Met
ENST00000360124.9:c.738G>A ENSP00000353241.5:n.738G>A
ENST00000360608.9:c.1120G>A ENSP00000353820.5:p.Val374Met
ENST00000389970.7:c.1111G>A ENSP00000374620.4:p.Val371Met
ENST00000488442.1:n.1844G>A
NM_000106.5:c.1120G>A NP_000097.3:p.Val374Met
NM_001025161.2:c.967G>A NP_001020332.2:p.Val323Met
XM_011529966.1:c.1120G>A XP_011528268.1:p.Val374Met
XM_011529967.1:c.1120G>A XP_011528269.1:p.Val374Met
XM_011529968.1:c.1120G>A XP_011528270.1:p.Val374Met
XM_011529969.1:c.976G>A XP_011528271.1:p.Val326Met
XM_011529970.1:c.967G>A XP_011528272.1:p.Val323Met
XM_011529971.1:c.976G>A XP_011528273.1:p.Val326Met
NM_000106.6:c.1120G>A MANE Select NP_000097.3:p.Val374Met
NM_001025161.3:c.967G>A NP_001020332.2:p.Val323Met