Canonical Allele Identifier: CA324686847
Gene: CYP2D7 HGNC NCBI
MyVariant.info:
GRCh38 chr22:g.42141112G>T
GRCh37 chr22:g.42537122G>T
gnomAD v2:
22:42537122 G / T
gnomAD v3:
22:42141112 G / T
gnomAD v4:
chr22-42141112-G-T
Joint Max Group AF 0.00048521 (AMR)
Genomes Max Group AF 0.00017144 (AMR)
Exomes Max Group AF 0.00053663 (AMR)
dbSNP:
9611741
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.42141112G>T , CM000684.2:g.42141112G>T GRCh38
NC_000022.10:g.42537122G>T , CM000684.1:g.42537122G>T GRCh37
NC_000022.9:g.40867066G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000435101.2:n.296+40C>A
ENST00000651010.1:n.3149+40C>A
ENST00000358097.8:c.1174+40C>A ENSP00000445124.1:n.1174+40C>A
ENST00000433992.2:c.1231+40C>A ENSP00000439604.1:n.1231+40C>A
ENST00000435101.1:c.296+40C>A ENSP00000437680.2:n.296+40C>A
ENST00000612115.1:c.1227+40C>A ENSP00000484065.1:n.1227+40C>A
ENST00000614967.4:c.1020+40C>A ENSP00000481168.1:n.1020+40C>A
NR_002570.3:n.1285+40C>A
NM_001348386.2:c.1230+40C>A NP_001335315.1:n.1230+40C>A
NR_002570.5:n.1193+40C>A
NR_145674.2:n.1250+40C>A
NM_001348386.3:c.1230+40C>A NP_001335315.1:n.1230+40C>A
NR_002570.6:n.1193+40C>A
NR_145674.3:n.1250+40C>A
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