Canonical Allele Identifier: CA324664553

Gene: CYP2D6

Linked Data

• dbSNP Id: rs973966643
• gnomAD v2: 22-42522647-G-A
• gnomAD v3: 22-42126645-G-A
• gnomAD v4: 22-42126645-G-A
• MyVariant Identifiers: chr22:g.42522647G>A (hg19) ; chr22:g.42126645G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42126645G>A , CM000684.2:g.42126645G>A	GRCh38
NC_000022.10:g.42522647G>A , CM000684.1:g.42522647G>A	GRCh37
NC_000022.9:g.40852591G>A	NCBI36
NG_008376.3:g.8347C>T
NG_008376.4:g.9166C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360124.10:c.1221C>T	ENSP00000353241.6:n.1221C>T
ENST00000645361.2:c.1423C>T MANE Select	ENSP00000496150.1:p.Pro475Ser
ENST00000359033.4:c.1270C>T	ENSP00000351927.4:p.Pro424Ser
ENST00000360124.9:c.1041C>T	ENSP00000353241.5:n.1041C>T
ENST00000360608.9:c.1423C>T	ENSP00000353820.5:p.Pro475Ser
ENST00000389970.7:c.1414C>T	ENSP00000374620.4:p.Pro472Ser
ENST00000488442.1:n.2147C>T
NM_000106.5:c.1423C>T	NP_000097.3:p.Pro475Ser
NM_001025161.2:c.1270C>T	NP_001020332.2:p.Pro424Ser
XM_011529966.1:c.1423C>T	XP_011528268.1:p.Pro475Ser
XM_011529967.1:c.1423C>T	XP_011528269.1:p.Pro475Ser
XM_011529968.1:c.1423C>T	XP_011528270.1:p.Pro475Ser
XM_011529969.1:c.1279C>T	XP_011528271.1:p.Pro427Ser
XM_011529970.1:c.1270C>T	XP_011528272.1:p.Pro424Ser
XM_011529971.1:c.1279C>T	XP_011528273.1:p.Pro427Ser
NM_000106.6:c.1423C>T MANE Select	NP_000097.3:p.Pro475Ser
NM_001025161.3:c.1270C>T	NP_001020332.2:p.Pro424Ser