Canonical Allele Identifier: CA405984713

Gene: CYP2B6

Linked Data

• gnomAD v4: 19-41012445-T-C
• MyVariant Identifiers: chr19:g.41518350T>C (hg19) ; chr19:g.41012445T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41012445T>C , CM000681.2:g.41012445T>C	GRCh38
NC_000019.9:g.41518350T>C , CM000681.1:g.41518350T>C	GRCh37
NC_000019.8:g.46210190T>C	NCBI36
NG_007929.1:g.26147T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324071.10:c.1112T>C MANE Select	ENSP00000324648.2:p.Val371Ala
ENST00000598834.2:c.1136T>C
ENST00000324071.8:c.1112T>C	ENSP00000324648.2:p.Val371Ala
ENST00000593831.1:c.404T>C	ENSP00000470582.1:p.Val135Ala
ENST00000597612.1:n.607T>C
NM_000767.4:c.1112T>C	NP_000758.1:p.Val371Ala
XM_005258569.3:c.1112T>C	XP_005258626.1:p.Val371Ala
XM_006723050.2:c.1112T>C	XP_006723113.1:p.Val371Ala
XM_011526546.1:c.1112T>C	XP_011524848.1:p.Val371Ala
XM_011526547.1:c.1112T>C	XP_011524849.1:p.Val371Ala
XM_011526548.1:c.632T>C	XP_011524850.1:p.Val211Ala
XM_011526549.1:c.521T>C	XP_011524851.1:p.Val174Ala
XM_011526550.1:c.512T>C	XP_011524852.1:p.Val171Ala
NM_000767.5:c.1112T>C MANE Select	NP_000758.1:p.Val371Ala