Canonical Allele Identifier: CA10264773
Gene: CYP2D6 HGNC NCBI
MyVariant.info:
GRCh38 chr22:g.42127895G>A
GRCh37 chr22:g.42523897G>A
Revel Score:
ENST00000360608 0.689
ENST00000389970 0.689
ENST00000413640 0.689
ENST00000359033 0.689
ENST00000542856 0.689
gnomAD v2:
22:42523897 G / A
gnomAD v3:
22:42127895 G / A
gnomAD v4:
chr22-42127895-G-A
Joint Max Group AF 0.00038971 (SAS)
Genomes Max Group AF 0.00016953 (SAS)
Exomes Max Group AF 0.00038007 (SAS)
dbSNP:
1135830
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.42127895G>A , CM000684.2:g.42127895G>A GRCh38
NC_000022.10:g.42523897G>A , CM000684.1:g.42523897G>A GRCh37
NC_000022.9:g.40853841G>A NCBI36
NG_008376.3:g.7097C>T
NG_008376.4:g.7916C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000360124.10:c.730C>T ENSP00000353241.6:n.730C>T
ENST00000645361.2:c.932C>T MANE Select ENSP00000496150.1:p.Ser311Leu
ENST00000359033.4:c.779C>T ENSP00000351927.4:p.Ser260Leu
ENST00000360124.9:c.550C>T ENSP00000353241.5:n.550C>T
ENST00000360608.9:c.932C>T ENSP00000353820.5:p.Ser311Leu
ENST00000389970.7:c.866C>T ENSP00000374620.4:p.Ser289Leu
ENST00000488442.1:n.1656C>T
NM_000106.5:c.932C>T NP_000097.3:p.Ser311Leu
NM_001025161.2:c.779C>T NP_001020332.2:p.Ser260Leu
XM_011529966.1:c.932C>T XP_011528268.1:p.Ser311Leu
XM_011529967.1:c.932C>T XP_011528269.1:p.Ser311Leu
XM_011529968.1:c.932C>T XP_011528270.1:p.Ser311Leu
XM_011529969.1:c.788C>T XP_011528271.1:p.Ser263Leu
XM_011529970.1:c.779C>T XP_011528272.1:p.Ser260Leu
XM_011529971.1:c.788C>T XP_011528273.1:p.Ser263Leu
XM_011529972.1:c.844-261C>T XP_011528274.1:n.844-261C>T
NM_000106.6:c.932C>T MANE Select NP_000097.3:p.Ser311Leu
NM_001025161.3:c.779C>T NP_001020332.2:p.Ser260Leu
Search 100 bp 5'
Search 100 bp 3'