Canonical Allele Identifier: CA14722057
Gene: CYP2B6 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.41009797T>C
GRCh37 chr19:g.41515702T>C
gnomAD v2:
19:41515702 T / C
gnomAD v3:
19:41009797 T / C
gnomAD v4:
chr19-41009797-T-C
Joint Max Group AF 0.80355994 (AMR)
Genomes Max Group AF 0.77393337 (AMR)
Exomes Max Group AF 0.81667096 (AMR)
dbSNP:
2279345
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41009797T>C , CM000681.2:g.41009797T>C GRCh38
NC_000019.9:g.41515702T>C , CM000681.1:g.41515702T>C GRCh37
NC_000019.8:g.46207542T>C NCBI36
NG_007929.1:g.23499T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000324071.10:c.823-197T>C MANE Select ENSP00000324648.2:n.823-197T>C
ENST00000598834.2:c.847-197T>C
ENST00000324071.8:c.823-197T>C ENSP00000324648.2:n.823-197T>C
ENST00000593831.1:c.257-2501T>C ENSP00000470582.1:n.257-2501T>C
ENST00000597612.1:n.121T>C
NM_000767.4:c.823-197T>C NP_000758.1:n.823-197T>C
XM_005258569.3:c.823-197T>C XP_005258626.1:n.823-197T>C
XM_006723050.2:c.823-197T>C XP_006723113.1:n.823-197T>C
XM_011526546.1:c.823-197T>C XP_011524848.1:n.823-197T>C
XM_011526547.1:c.823-197T>C XP_011524849.1:n.823-197T>C
XM_011526548.1:c.485-2501T>C XP_011524850.1:n.485-2501T>C
XM_011526549.1:c.232-197T>C XP_011524851.1:n.232-197T>C
XM_011526550.1:c.365-2501T>C XP_011524852.1:n.365-2501T>C
NM_000767.5:c.823-197T>C MANE Select NP_000758.1:n.823-197T>C
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