Canonical Allele Identifier: CA405965615
Gene: CYP2A6 HGNC NCBI

Linked Data

ClinVar Variation Id: 2558305
ClinVar RCV Id: RCV003295915
dbSNP Id: rs772772650
gnomAD v2: 19-41354540-C-A
gnomAD v3: 19-40848635-C-A
gnomAD v4: 19-40848635-C-A
MyVariant Identifiers: chr19:g.41354540C>A (hg19) chr19:g.40848635C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.40848635C>A , CM000681.2:g.40848635C>A GRCh38
NC_000019.9:g.41354540C>A , CM000681.1:g.41354540C>A GRCh37
NC_000019.8:g.46046380C>A NCBI36
NG_008377.1:g.6813G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000301141.10:c.472G>T MANE Select ENSP00000301141.4:p.Asp158Tyr
ENST00000301141.9:c.472G>T ENSP00000301141.4:p.Asp158Tyr
ENST00000596719.5:n.323G>T
ENST00000600495.1:c.*284G>T ENSP00000472905.1:n.*284G>T
ENST00000601627.1:c.120-43356C>A
ENST00000610301.1:c.472G>T ENSP00000477899.1:p.Asp158Tyr
NM_000762.5:c.472G>T NP_000753.3:p.Asp158Tyr
NM_000762.6:c.472G>T MANE Select NP_000753.3:p.Asp158Tyr
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