Canonical Allele Identifier: CA514800370

Gene: CYP2D6

Linked Data

• gnomAD v4: 22-42128345-C-G
• MyVariant Identifiers: chr22:g.42524347C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42128345C>G , CM000684.2:g.42128345C>G	GRCh38
NC_000022.10:g.42524347C>G , CM000684.1:g.42524347C>G	GRCh37
NC_000022.9:g.40854291C>G	NCBI36
NG_008376.3:g.6647G>C
NG_008376.4:g.7466G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360124.10:c.519G>C	ENSP00000353241.6:p.Leu173=
ENST00000645361.2:c.672G>C MANE Select	ENSP00000496150.1:p.Leu224=
ENST00000359033.4:c.519G>C	ENSP00000351927.4:p.Leu173=
ENST00000360124.9:c.339G>C	ENSP00000353241.5:p.Leu113=
ENST00000360608.9:c.672G>C	ENSP00000353820.5:p.Leu224=
ENST00000389970.7:c.606G>C	ENSP00000374620.4:p.Leu202=
ENST00000488442.1:n.1396G>C
NM_000106.5:c.672G>C	NP_000097.3:p.Leu224=
NM_001025161.2:c.519G>C	NP_001020332.2:p.Leu173=
XM_011529966.1:c.672G>C	XP_011528268.1:p.Leu224=
XM_011529967.1:c.672G>C	XP_011528269.1:p.Leu224=
XM_011529968.1:c.672G>C	XP_011528270.1:p.Leu224=
XM_011529969.1:c.528G>C	XP_011528271.1:p.Leu176=
XM_011529970.1:c.519G>C	XP_011528272.1:p.Leu173=
XM_011529971.1:c.528G>C	XP_011528273.1:p.Leu176=
XM_011529972.1:c.672G>C	XP_011528274.1:p.Leu224=
NM_000106.6:c.672G>C MANE Select	NP_000097.3:p.Leu224=
NM_001025161.3:c.519G>C	NP_001020332.2:p.Leu173=