Canonical Allele Identifier: CA639828139

Gene: CYP2D7

Linked Data

• dbSNP Id: rs1357208119
• gnomAD v2: 22-42538423-C-T
• gnomAD v3: 22-42142413-C-T
• gnomAD v4: 22-42142413-C-T
• MyVariant Identifiers: chr22:g.42538423C>T (hg19) ; chr22:g.42142413C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42142413C>T , CM000684.2:g.42142413C>T	GRCh38
NC_000022.10:g.42538423C>T , CM000684.1:g.42538423C>T	GRCh37
NC_000022.9:g.40868367C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000651010.1:n.2620+66G>A
ENST00000358097.8:c.667+66G>A	ENSP00000445124.1:n.667+66G>A
ENST00000433992.2:c.667+66G>A	ENSP00000439604.1:n.667+66G>A
ENST00000610593.4:n.752+66G>A
ENST00000612115.1:c.666+66G>A	ENSP00000484065.1:n.666+66G>A
ENST00000614967.4:c.513+66G>A	ENSP00000481168.1:n.513+66G>A
NR_002570.3:n.778+66G>A
NM_001348386.2:c.666+66G>A	NP_001335315.1:n.666+66G>A
NR_002570.5:n.686+66G>A
NR_145674.2:n.686+66G>A
NM_001348386.3:c.666+66G>A	NP_001335315.1:n.666+66G>A
NR_002570.6:n.686+66G>A
NR_145674.3:n.686+66G>A