Canonical Allele Identifier: CA411772459

Gene: CYP2D6

Linked Data

• MyVariant Identifiers: chr22:g.42523874G>C (hg19) ; chr22:g.42127872G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42127872G>C , CM000684.2:g.42127872G>C	GRCh38
NC_000022.10:g.42523874G>C , CM000684.1:g.42523874G>C	GRCh37
NC_000022.9:g.40853818G>C	NCBI36
NG_008376.3:g.7120C>G
NG_008376.4:g.7939C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000360124.10:c.753C>G	ENSP00000353241.6:n.753C>G
ENST00000645361.2:c.955C>G MANE Select	ENSP00000496150.1:p.Leu319Val
ENST00000359033.4:c.802C>G	ENSP00000351927.4:p.Leu268Val
ENST00000360124.9:c.573C>G	ENSP00000353241.5:n.573C>G
ENST00000360608.9:c.955C>G	ENSP00000353820.5:p.Leu319Val
ENST00000389970.7:c.889C>G	ENSP00000374620.4:p.Leu297Val
ENST00000488442.1:n.1679C>G
NM_000106.5:c.955C>G	NP_000097.3:p.Leu319Val
NM_001025161.2:c.802C>G	NP_001020332.2:p.Leu268Val
XM_011529966.1:c.955C>G	XP_011528268.1:p.Leu319Val
XM_011529967.1:c.955C>G	XP_011528269.1:p.Leu319Val
XM_011529968.1:c.955C>G	XP_011528270.1:p.Leu319Val
XM_011529969.1:c.811C>G	XP_011528271.1:p.Leu271Val
XM_011529970.1:c.802C>G	XP_011528272.1:p.Leu268Val
XM_011529971.1:c.811C>G	XP_011528273.1:p.Leu271Val
XM_011529972.1:c.844-238C>G	XP_011528274.1:n.844-238C>G
NM_000106.6:c.955C>G MANE Select	NP_000097.3:p.Leu319Val
NM_001025161.3:c.802C>G	NP_001020332.2:p.Leu268Val