Canonical Allele Identifier: CA10265804
Gene: CYP2D7 HGNC NCBI
MyVariant.info:
GRCh38 chr22:g.42141910T>G
GRCh37 chr22:g.42537920T>G
gnomAD v2:
22:42537920 T / G
gnomAD v3:
22:42141910 T / G
gnomAD v4:
chr22-42141910-T-G
Joint Max Group AF 0.01741718 (MID)
Genomes Max Group AF 0.00526962 (AFR)
Exomes Max Group AF 0.01718239 (MID)
ClinVar RCV:
RCV003437624
ClinVar Variation:
2653243
dbSNP:
199515619
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.42141910T>G , CM000684.2:g.42141910T>G GRCh38
NC_000022.10:g.42537920T>G , CM000684.1:g.42537920T>G GRCh37
NC_000022.9:g.40867864T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000435101.2:n.15A>C
ENST00000651010.1:n.2755A>C
ENST00000358097.8:c.802A>C ENSP00000445124.1:p.Thr268Pro
ENST00000433992.2:c.802A>C ENSP00000439604.1:p.Thr268Pro
ENST00000435101.1:c.15A>C ENSP00000437680.2:p.Pro5=
ENST00000610593.4:n.887A>C
ENST00000612115.1:c.801A>C ENSP00000484065.1:p.Pro267=
ENST00000614967.4:c.648A>C ENSP00000481168.1:p.Pro216=
NR_002570.3:n.913A>C
NM_001348386.2:c.801A>C NP_001335315.1:p.Pro267=
NR_002570.5:n.821A>C
NR_145674.2:n.821A>C
NM_001348386.3:c.801A>C NP_001335315.1:p.Pro267=
NR_002570.6:n.821A>C
NR_145674.3:n.821A>C
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