Canonical Allele Identifier: CA411769828

Gene: CYP2D6

Linked Data

• gnomAD v4: 22-42126617-A-G
• MyVariant Identifiers: chr22:g.42522619A>G (hg19) ; chr22:g.42126617A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42126617A>G , CM000684.2:g.42126617A>G	GRCh38
NC_000022.10:g.42522619A>G , CM000684.1:g.42522619A>G	GRCh37
NC_000022.9:g.40852563A>G	NCBI36
NG_008376.3:g.8375T>C
NG_008376.4:g.9194T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000360124.10:c.1249T>C	ENSP00000353241.6:n.1249T>C
ENST00000645361.2:c.1451T>C MANE Select	ENSP00000496150.1:p.Leu484Pro
ENST00000359033.4:c.1298T>C	ENSP00000351927.4:p.Leu433Pro
ENST00000360124.9:c.1069T>C	ENSP00000353241.5:n.1069T>C
ENST00000360608.9:c.1451T>C	ENSP00000353820.5:p.Leu484Pro
ENST00000389970.7:c.1442T>C	ENSP00000374620.4:p.Leu481Pro
ENST00000488442.1:n.2175T>C
NM_000106.5:c.1451T>C	NP_000097.3:p.Leu484Pro
NM_001025161.2:c.1298T>C	NP_001020332.2:p.Leu433Pro
XM_011529966.1:c.1451T>C	XP_011528268.1:p.Leu484Pro
XM_011529967.1:c.1451T>C	XP_011528269.1:p.Leu484Pro
XM_011529968.1:c.1451T>C	XP_011528270.1:p.Leu484Pro
XM_011529969.1:c.1307T>C	XP_011528271.1:p.Leu436Pro
XM_011529970.1:c.1298T>C	XP_011528272.1:p.Leu433Pro
XM_011529971.1:c.1307T>C	XP_011528273.1:p.Leu436Pro
NM_000106.6:c.1451T>C MANE Select	NP_000097.3:p.Leu484Pro
NM_001025161.3:c.1298T>C	NP_001020332.2:p.Leu433Pro