Canonical Allele Identifier: CA411772548

Gene: CYP2D6

Linked Data

• gnomAD v4: 22-42127895-G-C
• MyVariant Identifiers: chr22:g.42523897G>C (hg19) ; chr22:g.42127895G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42127895G>C , CM000684.2:g.42127895G>C	GRCh38
NC_000022.10:g.42523897G>C , CM000684.1:g.42523897G>C	GRCh37
NC_000022.9:g.40853841G>C	NCBI36
NG_008376.3:g.7097C>G
NG_008376.4:g.7916C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360124.10:c.730C>G	ENSP00000353241.6:n.730C>G
ENST00000645361.2:c.932C>G MANE Select	ENSP00000496150.1:p.Ser311Trp
ENST00000359033.4:c.779C>G	ENSP00000351927.4:p.Ser260Trp
ENST00000360124.9:c.550C>G	ENSP00000353241.5:n.550C>G
ENST00000360608.9:c.932C>G	ENSP00000353820.5:p.Ser311Trp
ENST00000389970.7:c.866C>G	ENSP00000374620.4:p.Ser289Trp
ENST00000488442.1:n.1656C>G
NM_000106.5:c.932C>G	NP_000097.3:p.Ser311Trp
NM_001025161.2:c.779C>G	NP_001020332.2:p.Ser260Trp
XM_011529966.1:c.932C>G	XP_011528268.1:p.Ser311Trp
XM_011529967.1:c.932C>G	XP_011528269.1:p.Ser311Trp
XM_011529968.1:c.932C>G	XP_011528270.1:p.Ser311Trp
XM_011529969.1:c.788C>G	XP_011528271.1:p.Ser263Trp
XM_011529970.1:c.779C>G	XP_011528272.1:p.Ser260Trp
XM_011529971.1:c.788C>G	XP_011528273.1:p.Ser263Trp
XM_011529972.1:c.844-261C>G	XP_011528274.1:n.844-261C>G
NM_000106.6:c.932C>G MANE Select	NP_000097.3:p.Ser311Trp
NM_001025161.3:c.779C>G	NP_001020332.2:p.Ser260Trp