Canonical Allele Identifier: CA039095
Gene: CYP2D6 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 242701
ClinVar RCV Id: RCV000609529
dbSNP Id: rs1135840
MyVariant Identifiers: chr22:g.42126611C>G (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.42126611C>G , CM000684.2:g.42126611C>G GRCh38
NC_000022.10:g.42522613C>G , CM000684.1:g.42522613C>G GRCh37
NC_000022.9:g.40852557C>G NCBI36
NG_008376.3:g.8381G>C
NG_008376.4:g.9200G>C

Transcript Alleles

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