Canonical Allele Identifier: CA324689683
Gene: CYP2D7 HGNC NCBI
MyVariant.info:
GRCh38 chr22:g.42142617G>A
gnomAD v3:
22:42142617 G / A
gnomAD v4:
chr22-42142617-G-A
Joint Max Group AF 0.65895047 (AFR)
Genomes Max Group AF 0.65430292 (EAS)
Exomes Max Group AF 0.6690122 (AFR)
dbSNP:
2267448
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.42142617G>A , CM000684.2:g.42142617G>A GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000651010.1:n.2482C>T
ENST00000358097.8:c.529C>T ENSP00000445124.1:p.Pro177Ser
ENST00000433992.2:c.529C>T ENSP00000439604.1:p.Pro177Ser
ENST00000610593.4:n.614C>T
ENST00000612115.1:c.528C>T ENSP00000484065.1:p.Gly176=
ENST00000614967.4:c.375C>T ENSP00000481168.1:p.Gly125=
NR_002570.3:n.640C>T
NM_001348386.2:c.528C>T NP_001335315.1:p.Gly176=
NR_002570.5:n.548C>T
NR_145674.2:n.548C>T
NM_001348386.3:c.528C>T NP_001335315.1:p.Gly176=
NR_002570.6:n.548C>T
NR_145674.3:n.548C>T
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