Canonical Allele Identifier: CA514800462

Gene: CYP2D6

Linked Data

• MyVariant Identifiers: chr22:g.42523932C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42127930C>G , CM000684.2:g.42127930C>G	GRCh38
NC_000022.10:g.42523932C>G , CM000684.1:g.42523932C>G	GRCh37
NC_000022.9:g.40853876C>G	NCBI36
NG_008376.3:g.7062G>C
NG_008376.4:g.7881G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360124.10:c.695G>C	ENSP00000353241.6:p.Trp232Ser
ENST00000645361.2:c.897G>C MANE Select	ENSP00000496150.1:p.Val299=
ENST00000359033.4:c.744G>C	ENSP00000351927.4:p.Val248=
ENST00000360124.9:c.515G>C	ENSP00000353241.5:p.Trp172Ser
ENST00000360608.9:c.897G>C	ENSP00000353820.5:p.Val299=
ENST00000389970.7:c.831G>C	ENSP00000374620.4:p.Val277=
ENST00000488442.1:n.1621G>C
NM_000106.5:c.897G>C	NP_000097.3:p.Val299=
NM_001025161.2:c.744G>C	NP_001020332.2:p.Val248=
XM_011529966.1:c.897G>C	XP_011528268.1:p.Val299=
XM_011529967.1:c.897G>C	XP_011528269.1:p.Val299=
XM_011529968.1:c.897G>C	XP_011528270.1:p.Val299=
XM_011529969.1:c.753G>C	XP_011528271.1:p.Val251=
XM_011529970.1:c.744G>C	XP_011528272.1:p.Val248=
XM_011529971.1:c.753G>C	XP_011528273.1:p.Val251=
XM_011529972.1:c.843+244G>C	XP_011528274.1:n.843+244G>C
NM_000106.6:c.897G>C MANE Select	NP_000097.3:p.Val299=
NM_001025161.3:c.744G>C	NP_001020332.2:p.Val248=