Canonical Allele Identifier: CA039095

Gene: CYP2D6

Linked Data

• ClinVar Variation Id: 242701
• ClinVar RCV Id: RCV000609529 ; RCV000734610
• dbSNP Id: rs1135840
• gnomAD v3: 22-42126611-C-G
• gnomAD v4: 22-42126611-C-G
• MyVariant Identifiers: chr22:g.42126611C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42126611C>G , CM000684.2:g.42126611C>G	GRCh38
NG_008376.3:g.8381G>C
NG_008376.4:g.9200G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000360124.10:c.1255G>C	ENSP00000353241.6:n.1255G>C
ENST00000645361.2:c.1457G>C MANE Select	ENSP00000496150.1:p.Ser486Thr
ENST00000359033.4:c.1304G>C	ENSP00000351927.4:p.Ser435Thr
ENST00000360124.9:c.1075G>C	ENSP00000353241.5:n.1075G>C
ENST00000360608.9:c.1457G>C	ENSP00000353820.5:p.Ser486Thr
ENST00000389970.7:c.1448G>C	ENSP00000374620.4:p.Ser483Thr
ENST00000488442.1:n.2181G>C
NM_000106.5:c.1457G>C	NP_000097.3:p.Ser486Thr
NM_001025161.2:c.1304G>C	NP_001020332.2:p.Ser435Thr
XM_011529966.1:c.1452+5G>C	XP_011528268.1:n.1452+5G>C
XM_011529967.1:c.1452+5G>C	XP_011528269.1:n.1452+5G>C
XM_011529968.1:c.1452+5G>C	XP_011528270.1:n.1452+5G>C
XM_011529969.1:c.1308+5G>C	XP_011528271.1:n.1308+5G>C
XM_011529970.1:c.1299+5G>C	XP_011528272.1:n.1299+5G>C
XM_011529971.1:c.1313G>C	XP_011528273.1:p.Ser438Thr
NM_000106.6:c.1457G>C MANE Select	NP_000097.3:p.Ser486Thr
NM_001025161.3:c.1304G>C	NP_001020332.2:p.Ser435Thr