Canonical Allele Identifier: CA324688259
Gene: CYP2D7 HGNC NCBI
gnomAD v2:
22:42538204 CCT / C
gnomAD v3:
22:42142194 CCT / C
gnomAD v4:
chr22-42142194-CCT-C
Joint Max Group AF 0.00219877 (AMR)
Genomes Max Group AF 0.00220222 (AMR)
Exomes Max Group AF 0.00200047 (AMR)
dbSNP:
3045547
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.42142202_42142203del , CM000684.2:g.42142202_42142203del GRCh38
NC_000022.10:g.42538212_42538213del , CM000684.1:g.42538212_42538213del GRCh37
NC_000022.9:g.40868156_40868157del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000651010.1:n.2621-152_2621-151del
ENST00000358097.8:c.668-152_668-151del ENSP00000445124.1:n.668-152_668-151del
ENST00000433992.2:c.668-152_668-151del ENSP00000439604.1:n.668-152_668-151del
ENST00000610593.4:n.753-152_753-151del
ENST00000612115.1:c.667-152_667-151del ENSP00000484065.1:n.667-152_667-151del
ENST00000614967.4:c.514-152_514-151del ENSP00000481168.1:n.514-152_514-151del
NR_002570.3:n.779-152_779-151del
NM_001348386.2:c.667-152_667-151del NP_001335315.1:n.667-152_667-151del
NR_002570.5:n.687-152_687-151del
NR_145674.2:n.687-152_687-151del
NM_001348386.3:c.667-152_667-151del NP_001335315.1:n.667-152_667-151del
NR_002570.6:n.687-152_687-151del
NR_145674.3:n.687-152_687-151del
Search 100 bp 5'
Search 100 bp 3'