Canonical Allele Identifier: CA411775860
Gene: CYP2D6 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.42130668C>G , CM000684.2:g.42130668C>G GRCh38
NC_000022.10:g.42526670C>G , CM000684.1:g.42526670C>G GRCh37
NC_000022.9:g.40856614C>G NCBI36
NG_008376.3:g.4324G>C
NG_008376.4:g.5143G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000360124.10:c.124G>C ENSP00000353241.6:p.Gly42Arg
ENST00000645361.2:c.124G>C MANE Select ENSP00000496150.1:p.Gly42Arg
ENST00000359033.4:c.124G>C ENSP00000351927.4:p.Gly42Arg
ENST00000360608.9:c.124G>C ENSP00000353820.5:p.Gly42Arg
ENST00000389970.7:c.58G>C ENSP00000374620.4:p.Gly20Arg
ENST00000488442.1:n.146G>C
NM_000106.5:c.124G>C NP_000097.3:p.Gly42Arg
NM_001025161.2:c.124G>C NP_001020332.2:p.Gly42Arg
XM_011529966.1:c.124G>C XP_011528268.1:p.Gly42Arg
XM_011529967.1:c.124G>C XP_011528269.1:p.Gly42Arg
XM_011529968.1:c.124G>C XP_011528270.1:p.Gly42Arg
XM_011529969.1:c.37+629G>C XP_011528271.1:n.37+629G>C
XM_011529970.1:c.124G>C XP_011528272.1:p.Gly42Arg
XM_011529971.1:c.37+629G>C XP_011528273.1:n.37+629G>C
XM_011529972.1:c.124G>C XP_011528274.1:p.Gly42Arg
XR_430455.2:n.308C>G
NM_000106.6:c.124G>C MANE Select NP_000097.3:p.Gly42Arg
XR_002958749.1:n.255C>G
NM_001025161.3:c.124G>C NP_001020332.2:p.Gly42Arg