Canonical Allele Identifier: CA411769873

Gene: CYP2D6

Linked Data

• dbSNP Id: rs1290348511
• gnomAD v2: 22-42522643-C-G
• gnomAD v3: 22-42126641-C-G
• gnomAD v4: 22-42126641-C-G
• MyVariant Identifiers: chr22:g.42522643C>G (hg19) ; chr22:g.42126641C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42126641C>G , CM000684.2:g.42126641C>G	GRCh38
NC_000022.10:g.42522643C>G , CM000684.1:g.42522643C>G	GRCh37
NC_000022.9:g.40852587C>G	NCBI36
NG_008376.3:g.8351G>C
NG_008376.4:g.9170G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000360124.10:c.1225G>C	ENSP00000353241.6:n.1225G>C
ENST00000645361.2:c.1427G>C MANE Select	ENSP00000496150.1:p.Ser476Thr
ENST00000359033.4:c.1274G>C	ENSP00000351927.4:p.Ser425Thr
ENST00000360124.9:c.1045G>C	ENSP00000353241.5:n.1045G>C
ENST00000360608.9:c.1427G>C	ENSP00000353820.5:p.Ser476Thr
ENST00000389970.7:c.1418G>C	ENSP00000374620.4:p.Ser473Thr
ENST00000488442.1:n.2151G>C
NM_000106.5:c.1427G>C	NP_000097.3:p.Ser476Thr
NM_001025161.2:c.1274G>C	NP_001020332.2:p.Ser425Thr
XM_011529966.1:c.1427G>C	XP_011528268.1:p.Ser476Thr
XM_011529967.1:c.1427G>C	XP_011528269.1:p.Ser476Thr
XM_011529968.1:c.1427G>C	XP_011528270.1:p.Ser476Thr
XM_011529969.1:c.1283G>C	XP_011528271.1:p.Ser428Thr
XM_011529970.1:c.1274G>C	XP_011528272.1:p.Ser425Thr
XM_011529971.1:c.1283G>C	XP_011528273.1:p.Ser428Thr
NM_000106.6:c.1427G>C MANE Select	NP_000097.3:p.Ser476Thr
NM_001025161.3:c.1274G>C	NP_001020332.2:p.Ser425Thr