Canonical Allele Identifier: CA9453093
Gene: CYP2A6 HGNC NCBI

Linked Data

dbSNP Id: rs768731211
ExAC: 19:41354536 GC / G
gnomAD v2: 19-41354536-GC-G
gnomAD v3: 19-40848631-GC-G
gnomAD v4: 19-40848631-GC-G
MyVariant Identifiers: chr19:g.41354537del (hg19) chr19:g.40848632del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.40848632del , CM000681.2:g.40848632del GRCh38
NC_000019.9:g.41354537del , CM000681.1:g.41354537del GRCh37
NC_000019.8:g.46046377del NCBI36
NG_008377.1:g.6816del

Transcript Alleles

HGVS Amino-acid change
ENST00000301141.10:c.475del MANE Select ENSP00000301141.4:p.Ala159ProfsTer16
ENST00000301141.9:c.475del ENSP00000301141.4:p.Ala159ProfsTer16
ENST00000596719.5:n.326del
ENST00000600495.1:c.*287del ENSP00000472905.1:n.*287del
ENST00000601627.1:c.120-43359del
ENST00000610301.1:c.475del ENSP00000477899.1:p.Ala159ProfsTer16
NM_000762.5:c.475del NP_000753.3:p.Ala159ProfsTer16
NM_000762.6:c.475del MANE Select NP_000753.3:p.Ala159ProfsTer16
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