Canonical Allele Identifier: CA324687026
Gene: CYP2D7 HGNC NCBI
MyVariant.info:
GRCh38 chr22:g.42141217C>T
gnomAD v3:
22:42141217 C / T
gnomAD v4:
chr22-42141217-C-T
Joint Max Group AF 0.77846053 (SAS)
Genomes Max Group AF 0.79054184 (SAS)
Exomes Max Group AF 0.77671574 (SAS)
dbSNP:
2982055
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.42141217C>T , CM000684.2:g.42141217C>T GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000435101.2:n.231G>A
ENST00000651010.1:n.3084G>A
ENST00000358097.8:c.1109G>A ENSP00000445124.1:p.Arg370His
ENST00000433992.2:c.1166G>A ENSP00000439604.1:p.Arg389His
ENST00000435101.1:c.231G>A ENSP00000437680.2:n.231G>A
ENST00000612115.1:c.1162G>A ENSP00000484065.1:p.Val388Ile
ENST00000614967.4:c.955G>A ENSP00000481168.1:p.Val319Ile
NR_002570.3:n.1220G>A
NM_001348386.2:c.1165G>A NP_001335315.1:p.Val389Ile
NR_002570.5:n.1128G>A
NR_145674.2:n.1185G>A
NM_001348386.3:c.1165G>A NP_001335315.1:p.Val389Ile
NR_002570.6:n.1128G>A
NR_145674.3:n.1185G>A
Search 100 bp 5'
Search 100 bp 3'