Canonical Allele Identifier: CA14676497
Gene: CYP2B6 HGNC NCBI
COSMIC:
COSN19664634 (not active)
COSN26728396 (not active)
MyVariant.info:
GRCh38 chr19:g.41012868C>T
GRCh37 chr19:g.41518773C>T
gnomAD v2:
19:41518773 C / T
gnomAD v3:
19:41012868 C / T
gnomAD v4:
chr19-41012868-C-T
Joint Max Group AF 0.3850282 (SAS)
Genomes Max Group AF 0.36764747 (AFR)
Exomes Max Group AF 0.38554451 (SAS)
dbSNP:
8192719
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41012868C>T , CM000681.2:g.41012868C>T GRCh38
NC_000019.9:g.41518773C>T , CM000681.1:g.41518773C>T GRCh37
NC_000019.8:g.46210613C>T NCBI36
NG_007929.1:g.26570C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000324071.10:c.1294+53C>T MANE Select ENSP00000324648.2:n.1294+53C>T
ENST00000598834.2:c.1177-105C>T
ENST00000324071.8:c.1294+53C>T ENSP00000324648.2:n.1294+53C>T
ENST00000593831.1:c.586+53C>T ENSP00000470582.1:n.586+53C>T
ENST00000597612.1:n.647+383C>T
NM_000767.4:c.1294+53C>T NP_000758.1:n.1294+53C>T
XM_005258569.3:c.1152+383C>T XP_005258626.1:n.1152+383C>T
XM_006723050.2:c.1294+53C>T XP_006723113.1:n.1294+53C>T
XM_011526546.1:c.1205C>T XP_011524848.1:p.Pro402Leu
XM_011526547.1:c.1153-105C>T XP_011524849.1:n.1153-105C>T
XM_011526548.1:c.814+53C>T XP_011524850.1:n.814+53C>T
XM_011526549.1:c.703+53C>T XP_011524851.1:n.703+53C>T
XM_011526550.1:c.694+53C>T XP_011524852.1:n.694+53C>T
NM_000767.5:c.1294+53C>T MANE Select NP_000758.1:n.1294+53C>T
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