Canonical Allele Identifier: CA324689171
Gene: CYP2D7 HGNC NCBI
dbSNP:
5758596
gnomAD v2:
22:42538411 C / T
gnomAD v3:
22:42142401 C / T
gnomAD v4:
chr22-42142401-C-T
Joint Max Group AF 0.00270719 (AFR)
Genomes Max Group AF 0.00321699 (AFR)
Exomes Max Group AF 0.0016505 (AFR)
MyVariant.info:
GRCh38 chr22:g.42142401C>T
GRCh37 chr22:g.42538411C>T
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.42142401C>T , CM000684.2:g.42142401C>T GRCh38
NC_000022.10:g.42538411C>T , CM000684.1:g.42538411C>T GRCh37
NC_000022.9:g.40868355C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000651010.1:n.2620+78G>A
ENST00000358097.8:c.667+78G>A ENSP00000445124.1:n.667+78G>A
ENST00000433992.2:c.667+78G>A ENSP00000439604.1:n.667+78G>A
ENST00000610593.4:n.752+78G>A
ENST00000612115.1:c.666+78G>A ENSP00000484065.1:n.666+78G>A
ENST00000614967.4:c.513+78G>A ENSP00000481168.1:n.513+78G>A
NR_002570.3:n.778+78G>A
NM_001348386.2:c.666+78G>A NP_001335315.1:n.666+78G>A
NR_002570.5:n.686+78G>A
NR_145674.2:n.686+78G>A
NM_001348386.3:c.666+78G>A NP_001335315.1:n.666+78G>A
NR_002570.6:n.686+78G>A
NR_145674.3:n.686+78G>A
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