Canonical Allele Identifier: CA514800459
Gene: CYP2D6 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.42523500C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.42127498C>G , CM000684.2:g.42127498C>G GRCh38
NC_000022.10:g.42523500C>G , CM000684.1:g.42523500C>G GRCh37
NC_000022.9:g.40853444C>G NCBI36
NG_008376.3:g.7494G>C
NG_008376.4:g.8313G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000360124.10:c.920G>C ENSP00000353241.6:n.920G>C
ENST00000645361.2:c.1122G>C MANE Select ENSP00000496150.1:p.Val374=
ENST00000359033.4:c.969G>C ENSP00000351927.4:p.Val323=
ENST00000360124.9:c.740G>C ENSP00000353241.5:n.740G>C
ENST00000360608.9:c.1122G>C ENSP00000353820.5:p.Val374=
ENST00000389970.7:c.1113G>C ENSP00000374620.4:p.Val371=
ENST00000488442.1:n.1846G>C
NM_000106.5:c.1122G>C NP_000097.3:p.Val374=
NM_001025161.2:c.969G>C NP_001020332.2:p.Val323=
XM_011529966.1:c.1122G>C XP_011528268.1:p.Val374=
XM_011529967.1:c.1122G>C XP_011528269.1:p.Val374=
XM_011529968.1:c.1122G>C XP_011528270.1:p.Val374=
XM_011529969.1:c.978G>C XP_011528271.1:p.Val326=
XM_011529970.1:c.969G>C XP_011528272.1:p.Val323=
XM_011529971.1:c.978G>C XP_011528273.1:p.Val326=
NM_000106.6:c.1122G>C MANE Select NP_000097.3:p.Val374=
NM_001025161.3:c.969G>C NP_001020332.2:p.Val323=