Canonical Allele Identifier: CA501129
Gene: CYP2A13 HGNC NCBI
COSMIC:
COSM232121 (not active)
MyVariant.info:
GRCh38 chr19:g.41091846C>T
GRCh37 chr19:g.41597751C>T
Revel Score:
ENST00000330436 (MANE Select) 0.093
gnomAD v2:
19:41597751 C / T
gnomAD v3:
19:41091846 C / T
gnomAD v4:
chr19-41091846-C-T
Joint Max Group AF 0.17280902 (AFR)
Genomes Max Group AF 0.16882447 (AFR)
Exomes Max Group AF 0.17544265 (AFR)
dbSNP:
8192789
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41091846C>T , CM000681.2:g.41091846C>T GRCh38
NC_000019.9:g.41597751C>T , CM000681.1:g.41597751C>T GRCh37
NC_000019.8:g.46289591C>T NCBI36
NG_007928.1:g.8384C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000330436.4:c.769C>T MANE Select ENSP00000332679.1:p.Arg257Cys
ENST00000330436.3:c.769C>T ENSP00000332679.1:p.Arg257Cys
NM_000766.4:c.769C>T NP_000757.2:p.Arg257Cys
NM_000766.5:c.769C>T MANE Select NP_000757.2:p.Arg257Cys
Search 100 bp 5'
Search 100 bp 3'