Canonical Allele Identifier: CA9453017
Gene: CYP2A6 HGNC NCBI

Linked Data

dbSNP Id: rs748975181
ExAC: 19:41354172 C / G
gnomAD v2: 19-41354172-C-G
gnomAD v3: 19-40848267-C-G
gnomAD v4: 19-40848267-C-G
MyVariant Identifiers: chr19:g.41354172C>G (hg19) chr19:g.40848267C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.40848267C>G , CM000681.2:g.40848267C>G GRCh38
NC_000019.9:g.41354172C>G , CM000681.1:g.41354172C>G GRCh37
NC_000019.8:g.46046012C>G NCBI36
NG_008377.1:g.7181G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000301141.10:c.606G>C MANE Select ENSP00000301141.4:p.Leu202Phe
ENST00000301141.9:c.606G>C ENSP00000301141.4:p.Leu202Phe
ENST00000596719.5:n.457G>C
ENST00000600495.1:c.*418G>C ENSP00000472905.1:n.*418G>C
ENST00000601627.1:c.120-43724C>G
ENST00000610301.1:c.606G>C ENSP00000477899.1:p.Leu202Phe
NM_000762.5:c.606G>C NP_000753.3:p.Leu202Phe
NM_000762.6:c.606G>C MANE Select NP_000753.3:p.Leu202Phe
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