Canonical Allele Identifier: CA9456108
Gene: CYP2A13 HGNC NCBI
COSMIC:
COSM4599364 (not active)
MyVariant.info:
GRCh38 chr19:g.41089049C>T
GRCh37 chr19:g.41594954C>T
gnomAD v2:
19:41594954 C / T
gnomAD v3:
19:41089049 C / T
gnomAD v4:
chr19-41089049-C-T
Joint Max Group AF 0.00843706 (NFE)
Genomes Max Group AF 0.00897182 (NFE)
Exomes Max Group AF 0.00837195 (NFE)
dbSNP:
72552266
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41089049C>T , CM000681.2:g.41089049C>T GRCh38
NC_000019.9:g.41594954C>T , CM000681.1:g.41594954C>T GRCh37
NC_000019.8:g.46286794C>T NCBI36
NG_007928.1:g.5587C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000330436.4:c.301C>T MANE Select ENSP00000332679.1:p.Arg101Ter
ENST00000330436.3:c.301C>T ENSP00000332679.1:p.Arg101Ter
NM_000766.4:c.301C>T NP_000757.2:p.Arg101Ter
NM_000766.5:c.301C>T MANE Select NP_000757.2:p.Arg101Ter
Search 100 bp 5'
Search 100 bp 3'