Canonical Allele Identifier: CA10264623
Gene: CYP2D6 HGNC NCBI
MyVariant.info:
GRCh38 chr22:g.42127457C>T
GRCh37 chr22:g.42523459C>T
Revel Score:
ENST00000360608 0.056
ENST00000389970 0.056
ENST00000413640 0.056
ENST00000359033 0.056
ENST00000542856 0.056
gnomAD v2:
22:42523459 C / T
gnomAD v3:
22:42127457 C / T
gnomAD v4:
chr22-42127457-C-T
Joint Max Group AF 0.00008069 (NFE)
Genomes Max Group AF 0.00009074 (NFE)
Exomes Max Group AF 0.00007625 (NFE)
dbSNP:
77312092
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.42127457C>T , CM000684.2:g.42127457C>T GRCh38
NC_000022.10:g.42523459C>T , CM000684.1:g.42523459C>T GRCh37
NC_000022.9:g.40853403C>T NCBI36
NG_008376.3:g.7535G>A
NG_008376.4:g.8354G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000360124.10:c.961G>A ENSP00000353241.6:n.961G>A
ENST00000645361.2:c.1163G>A MANE Select ENSP00000496150.1:p.Arg388His
ENST00000359033.4:c.1010G>A ENSP00000351927.4:p.Arg337His
ENST00000360124.9:c.781G>A ENSP00000353241.5:n.781G>A
ENST00000360608.9:c.1163G>A ENSP00000353820.5:p.Arg388His
ENST00000389970.7:c.1154G>A ENSP00000374620.4:p.Arg385His
ENST00000488442.1:n.1887G>A
NM_000106.5:c.1163G>A NP_000097.3:p.Arg388His
NM_001025161.2:c.1010G>A NP_001020332.2:p.Arg337His
XM_011529966.1:c.1163G>A XP_011528268.1:p.Arg388His
XM_011529967.1:c.1163G>A XP_011528269.1:p.Arg388His
XM_011529968.1:c.1163G>A XP_011528270.1:p.Arg388His
XM_011529969.1:c.1019G>A XP_011528271.1:p.Arg340His
XM_011529970.1:c.1010G>A XP_011528272.1:p.Arg337His
XM_011529971.1:c.1019G>A XP_011528273.1:p.Arg340His
NM_000106.6:c.1163G>A MANE Select NP_000097.3:p.Arg388His
NM_001025161.3:c.1010G>A NP_001020332.2:p.Arg337His
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