Canonical Allele Identifier: CA324666461

Gene: CYP2D6

Linked Data

• dbSNP Id: rs1058171
• gnomAD v2: 22-42523928-C-T
• gnomAD v3: 22-42127926-C-T
• gnomAD v4: 22-42127926-C-T
• MyVariant Identifiers: chr22:g.42523928C>T (hg19) ; chr22:g.42127926C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42127926C>T , CM000684.2:g.42127926C>T	GRCh38
NC_000022.10:g.42523928C>T , CM000684.1:g.42523928C>T	GRCh37
NC_000022.9:g.40853872C>T	NCBI36
NG_008376.3:g.7066G>A
NG_008376.4:g.7885G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360124.10:c.699G>A	ENSP00000353241.6:p.Leu233=
ENST00000645361.2:c.901G>A MANE Select	ENSP00000496150.1:p.Asp301Asn
ENST00000359033.4:c.748G>A	ENSP00000351927.4:p.Asp250Asn
ENST00000360124.9:c.519G>A	ENSP00000353241.5:p.Leu173=
ENST00000360608.9:c.901G>A	ENSP00000353820.5:p.Asp301Asn
ENST00000389970.7:c.835G>A	ENSP00000374620.4:p.Asp279Asn
ENST00000488442.1:n.1625G>A
NM_000106.5:c.901G>A	NP_000097.3:p.Asp301Asn
NM_001025161.2:c.748G>A	NP_001020332.2:p.Asp250Asn
XM_011529966.1:c.901G>A	XP_011528268.1:p.Asp301Asn
XM_011529967.1:c.901G>A	XP_011528269.1:p.Asp301Asn
XM_011529968.1:c.901G>A	XP_011528270.1:p.Asp301Asn
XM_011529969.1:c.757G>A	XP_011528271.1:p.Asp253Asn
XM_011529970.1:c.748G>A	XP_011528272.1:p.Asp250Asn
XM_011529971.1:c.757G>A	XP_011528273.1:p.Asp253Asn
XM_011529972.1:c.843+248G>A	XP_011528274.1:n.843+248G>A
NM_000106.6:c.901G>A MANE Select	NP_000097.3:p.Asp301Asn
NM_001025161.3:c.748G>A	NP_001020332.2:p.Asp250Asn