Canonical Allele Identifier: CA10264971

Gene: CYP2D6

Linked Data

• dbSNP Id: rs769471599
• ExAC: 22:42524770 GTC / G
• gnomAD v2: 22-42524770-GTC-G
• gnomAD v3: 22-42128768-GTC-G
• gnomAD v4: 22-42128768-GTC-G
• MyVariant Identifiers: chr22:g.42524771_42524772del (hg19) ; chr22:g.42128769_42128770del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42128773_42128774del , CM000684.2:g.42128773_42128774del	GRCh38
NC_000022.10:g.42524775_42524776del , CM000684.1:g.42524775_42524776del	GRCh37
NC_000022.9:g.40854719_40854720del	NCBI36
NG_008376.3:g.6222_6223del
NG_008376.4:g.7041_7042del

Transcript Alleles

HGVS	Amino-acid change
ENST00000360124.10:c.513+14_513+15del	ENSP00000353241.6:n.513+14_513+15del
ENST00000645361.2:c.666+14_666+15del MANE Select	ENSP00000496150.1:n.666+14_666+15del
ENST00000359033.4:c.513+14_513+15del	ENSP00000351927.4:n.513+14_513+15del
ENST00000360124.9:c.333+14_333+15del	ENSP00000353241.5:n.333+14_333+15del
ENST00000360608.9:c.666+14_666+15del	ENSP00000353820.5:n.666+14_666+15del
ENST00000389970.7:c.600+14_600+15del	ENSP00000374620.4:n.600+14_600+15del
ENST00000488442.1:n.1390+14_1390+15del
NM_000106.5:c.666+14_666+15del	NP_000097.3:n.666+14_666+15del
NM_001025161.2:c.513+14_513+15del	NP_001020332.2:n.513+14_513+15del
XM_011529966.1:c.666+14_666+15del	XP_011528268.1:n.666+14_666+15del
XM_011529967.1:c.666+14_666+15del	XP_011528269.1:n.666+14_666+15del
XM_011529968.1:c.666+14_666+15del	XP_011528270.1:n.666+14_666+15del
XM_011529969.1:c.522+14_522+15del	XP_011528271.1:n.522+14_522+15del
XM_011529970.1:c.513+14_513+15del	XP_011528272.1:n.513+14_513+15del
XM_011529971.1:c.522+14_522+15del	XP_011528273.1:n.522+14_522+15del
XM_011529972.1:c.666+14_666+15del	XP_011528274.1:n.666+14_666+15del
NM_000106.6:c.666+14_666+15del MANE Select	NP_000097.3:n.666+14_666+15del
NM_001025161.3:c.513+14_513+15del	NP_001020332.2:n.513+14_513+15del