Canonical Allele Identifier: CA324670638

Gene: CYP2D6

Linked Data

• dbSNP Id: rs187203531
• gnomAD v2: 22-42524073-C-G
• gnomAD v3: 22-42128071-C-G
• gnomAD v4: 22-42128071-C-G
• MyVariant Identifiers: chr22:g.42524073C>G (hg19) ; chr22:g.42128071C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42128071C>G , CM000684.2:g.42128071C>G	GRCh38
NC_000022.10:g.42524073C>G , CM000684.1:g.42524073C>G	GRCh37
NC_000022.9:g.40854017C>G	NCBI36
NG_008376.3:g.6921G>C
NG_008376.4:g.7740G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000360124.10:c.690+103G>C	ENSP00000353241.6:n.690+103G>C
ENST00000645361.2:c.844-88G>C MANE Select	ENSP00000496150.1:n.844-88G>C
ENST00000359033.4:c.691-88G>C	ENSP00000351927.4:n.691-88G>C
ENST00000360124.9:c.510+103G>C	ENSP00000353241.5:n.510+103G>C
ENST00000360608.9:c.844-88G>C	ENSP00000353820.5:n.844-88G>C
ENST00000389970.7:c.778-88G>C	ENSP00000374620.4:n.778-88G>C
ENST00000488442.1:n.1568-88G>C
NM_000106.5:c.844-88G>C	NP_000097.3:n.844-88G>C
NM_001025161.2:c.691-88G>C	NP_001020332.2:n.691-88G>C
XM_011529966.1:c.844-88G>C	XP_011528268.1:n.844-88G>C
XM_011529967.1:c.844-88G>C	XP_011528269.1:n.844-88G>C
XM_011529968.1:c.844-88G>C	XP_011528270.1:n.844-88G>C
XM_011529969.1:c.700-88G>C	XP_011528271.1:n.700-88G>C
XM_011529970.1:c.691-88G>C	XP_011528272.1:n.691-88G>C
XM_011529971.1:c.700-88G>C	XP_011528273.1:n.700-88G>C
XM_011529972.1:c.843+103G>C	XP_011528274.1:n.843+103G>C
NM_000106.6:c.844-88G>C MANE Select	NP_000097.3:n.844-88G>C
NM_001025161.3:c.691-88G>C	NP_001020332.2:n.691-88G>C