Canonical Allele Identifier: CA10264518

Gene: CYP2D6

Linked Data

• dbSNP Id: rs1135837
• ExAC: 22:42522635 C / A
• gnomAD v2: 22-42522635-C-A
• gnomAD v4: 22-42126633-C-A
• MyVariant Identifiers: chr22:g.42522635C>A (hg19) ; chr22:g.42126633C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42126633C>A , CM000684.2:g.42126633C>A	GRCh38
NC_000022.10:g.42522635C>A , CM000684.1:g.42522635C>A	GRCh37
NC_000022.9:g.40852579C>A	NCBI36
NG_008376.3:g.8359G>T
NG_008376.4:g.9178G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000360124.10:c.1233G>T	ENSP00000353241.6:n.1233G>T
ENST00000645361.2:c.1435G>T MANE Select	ENSP00000496150.1:p.Gly479Cys
ENST00000359033.4:c.1282G>T	ENSP00000351927.4:p.Gly428Cys
ENST00000360124.9:c.1053G>T	ENSP00000353241.5:n.1053G>T
ENST00000360608.9:c.1435G>T	ENSP00000353820.5:p.Gly479Cys
ENST00000389970.7:c.1426G>T	ENSP00000374620.4:p.Gly476Cys
ENST00000488442.1:n.2159G>T
NM_000106.5:c.1435G>T	NP_000097.3:p.Gly479Cys
NM_001025161.2:c.1282G>T	NP_001020332.2:p.Gly428Cys
XM_011529966.1:c.1435G>T	XP_011528268.1:p.Gly479Cys
XM_011529967.1:c.1435G>T	XP_011528269.1:p.Gly479Cys
XM_011529968.1:c.1435G>T	XP_011528270.1:p.Gly479Cys
XM_011529969.1:c.1291G>T	XP_011528271.1:p.Gly431Cys
XM_011529970.1:c.1282G>T	XP_011528272.1:p.Gly428Cys
XM_011529971.1:c.1291G>T	XP_011528273.1:p.Gly431Cys
NM_000106.6:c.1435G>T MANE Select	NP_000097.3:p.Gly479Cys
NM_001025161.3:c.1282G>T	NP_001020332.2:p.Gly428Cys