Allele Registry

Canonical Allele Identifier: CA233031

Gene: CYP2B6 HGNC NCBI

Linked Data - Predicted Effect Evidence

MyVariant.info:

GRCh38 chr19:g.41004015T>A

GRCh37 chr19:g.41509920T>A

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000133445

ClinVar Variation:

143910

dbSNP:

281864907

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41004015T>A , CM000681.2:g.41004015T>A	GRCh38
NC_000019.9:g.41509920T>A , CM000681.1:g.41509920T>A	GRCh37
NC_000019.8:g.46201760T>A	NCBI36
NG_007929.1:g.17717T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324071.10:c.186T>A MANE Select	ENSP00000324648.2:p.Tyr62Ter
ENST00000598834.2:c.88T>A
ENST00000324071.8:c.186T>A	ENSP00000324648.2:p.Tyr62Ter
ENST00000593831.1:c.-43T>A	ENSP00000470582.1:n.-43T>A
ENST00000598834.1:n.88T>A
NM_000767.4:c.186T>A	NP_000758.1:p.Tyr62Ter
XM_005258569.3:c.186T>A	XP_005258626.1:p.Tyr62Ter
XM_006723050.2:c.186T>A	XP_006723113.1:p.Tyr62Ter
XM_011526546.1:c.186T>A	XP_011524848.1:p.Tyr62Ter
XM_011526547.1:c.186T>A	XP_011524849.1:p.Tyr62Ter
XM_011526548.1:c.186T>A	XP_011524850.1:p.Tyr62Ter
XM_011526550.1:c.66T>A	XP_011524852.1:p.Tyr22Ter
NM_000767.5:c.186T>A MANE Select	NP_000758.1:p.Tyr62Ter

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