Canonical Allele Identifier: CA411772793

Gene: CYP2D6

Linked Data

• MyVariant Identifiers: chr22:g.42523949T>G (hg19) ; chr22:g.42127947T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42127947T>G , CM000684.2:g.42127947T>G	GRCh38
NC_000022.10:g.42523949T>G , CM000684.1:g.42523949T>G	GRCh37
NC_000022.9:g.40853893T>G	NCBI36
NG_008376.3:g.7045A>C
NG_008376.4:g.7864A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000360124.10:c.691-13A>C	ENSP00000353241.6:n.691-13A>C
ENST00000645361.2:c.880A>C MANE Select	ENSP00000496150.1:p.Asn294His
ENST00000359033.4:c.727A>C	ENSP00000351927.4:p.Asn243His
ENST00000360124.9:c.511-13A>C	ENSP00000353241.5:n.511-13A>C
ENST00000360608.9:c.880A>C	ENSP00000353820.5:p.Asn294His
ENST00000389970.7:c.814A>C	ENSP00000374620.4:p.Asn272His
ENST00000488442.1:n.1604A>C
NM_000106.5:c.880A>C	NP_000097.3:p.Asn294His
NM_001025161.2:c.727A>C	NP_001020332.2:p.Asn243His
XM_011529966.1:c.880A>C	XP_011528268.1:p.Asn294His
XM_011529967.1:c.880A>C	XP_011528269.1:p.Asn294His
XM_011529968.1:c.880A>C	XP_011528270.1:p.Asn294His
XM_011529969.1:c.736A>C	XP_011528271.1:p.Asn246His
XM_011529970.1:c.727A>C	XP_011528272.1:p.Asn243His
XM_011529971.1:c.736A>C	XP_011528273.1:p.Asn246His
XM_011529972.1:c.843+227A>C	XP_011528274.1:n.843+227A>C
NM_000106.6:c.880A>C MANE Select	NP_000097.3:p.Asn294His
NM_001025161.3:c.727A>C	NP_001020332.2:p.Asn243His