Canonical Allele Identifier: CA14643177
Gene: CYP2B6 HGNC NCBI
dbSNP:
1042389
gnomAD v2:
19:41524153 T / C
gnomAD v3:
19:41018248 T / C
gnomAD v4:
chr19-41018248-T-C
Joint Max Group AF 0.29579705 (EAS)
Genomes Max Group AF 0.29602481 (EAS)
Exomes Max Group AF 0.08884008 (AMR)
MyVariant.info:
GRCh38 chr19:g.41018248T>C
GRCh37 chr19:g.41524153T>C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41018248T>C , CM000681.2:g.41018248T>C GRCh38
NC_000019.9:g.41524153T>C , CM000681.1:g.41524153T>C GRCh37
NC_000019.8:g.46215993T>C NCBI36
NG_007929.1:g.31950T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000324071.10:c.*1421T>C MANE Select ENSP00000324648.2:n.*1421T>C
ENST00000324071.8:c.*1421T>C ENSP00000324648.2:n.*1421T>C
NM_000767.4:c.*1421T>C NP_000758.1:n.*1421T>C
XM_011526548.1:c.*1421T>C XP_011524850.1:n.*1421T>C
XM_011526549.1:c.*1421T>C XP_011524851.1:n.*1421T>C
XM_011526550.1:c.*1421T>C XP_011524852.1:n.*1421T>C
NM_000767.5:c.*1421T>C MANE Select NP_000758.1:n.*1421T>C
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