Canonical Allele Identifier: CA514697282
Gene: CYP2D6 HGNC NCBI

Linked Data

dbSNP Id: rs2146937377
MyVariant Identifiers: chr22:g.42524920A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.42128918A>G , CM000684.2:g.42128918A>G GRCh38
NC_000022.10:g.42524920A>G , CM000684.1:g.42524920A>G GRCh37
NC_000022.9:g.40854864A>G NCBI36
NG_008376.3:g.6074T>C
NG_008376.4:g.6893T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000360124.10:c.379T>C ENSP00000353241.6:p.Leu127=
ENST00000645361.2:c.532T>C MANE Select ENSP00000496150.1:p.Leu178=
ENST00000359033.4:c.379T>C ENSP00000351927.4:p.Leu127=
ENST00000360124.9:c.199T>C ENSP00000353241.5:p.Leu67=
ENST00000360608.9:c.532T>C ENSP00000353820.5:p.Leu178=
ENST00000389970.7:c.466T>C ENSP00000374620.4:p.Leu156=
ENST00000488442.1:n.1256T>C
NM_000106.5:c.532T>C NP_000097.3:p.Leu178=
NM_001025161.2:c.379T>C NP_001020332.2:p.Leu127=
XM_011529966.1:c.532T>C XP_011528268.1:p.Leu178=
XM_011529967.1:c.532T>C XP_011528269.1:p.Leu178=
XM_011529968.1:c.532T>C XP_011528270.1:p.Leu178=
XM_011529969.1:c.388T>C XP_011528271.1:p.Leu130=
XM_011529970.1:c.379T>C XP_011528272.1:p.Leu127=
XM_011529971.1:c.388T>C XP_011528273.1:p.Leu130=
XM_011529972.1:c.532T>C XP_011528274.1:p.Leu178=
NM_000106.6:c.532T>C MANE Select NP_000097.3:p.Leu178=
NM_001025161.3:c.379T>C NP_001020332.2:p.Leu127=