Canonical Allele Identifier: CA411780659
Gene: CYP2D7 HGNC NCBI
MyVariant.info:
GRCh38 chr22:g.42142406G>C
GRCh37 chr22:g.42538416G>C
gnomAD v2:
22:42538416 G / C
gnomAD v3:
22:42142406 G / C
gnomAD v4:
chr22-42142406-G-C
Joint Max Group AF 0.00285313 (AFR)
Genomes Max Group AF 0.00344302 (AFR)
Exomes Max Group AF 0.00170025 (AFR)
dbSNP:
5758597
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.42142406G>C , CM000684.2:g.42142406G>C GRCh38
NC_000022.10:g.42538416G>C , CM000684.1:g.42538416G>C GRCh37
NC_000022.9:g.40868360G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000651010.1:n.2620+73C>G
ENST00000358097.8:c.667+73C>G ENSP00000445124.1:n.667+73C>G
ENST00000433992.2:c.667+73C>G ENSP00000439604.1:n.667+73C>G
ENST00000610593.4:n.752+73C>G
ENST00000612115.1:c.666+73C>G ENSP00000484065.1:n.666+73C>G
ENST00000614967.4:c.513+73C>G ENSP00000481168.1:n.513+73C>G
NR_002570.3:n.778+73C>G
NM_001348386.2:c.666+73C>G NP_001335315.1:n.666+73C>G
NR_002570.5:n.686+73C>G
NR_145674.2:n.686+73C>G
NM_001348386.3:c.666+73C>G NP_001335315.1:n.666+73C>G
NR_002570.6:n.686+73C>G
NR_145674.3:n.686+73C>G
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