Canonical Allele Identifier: CA405985923

Gene: CYP2B6

Linked Data

• gnomAD v4: 19-41012684-T-C
• MyVariant Identifiers: chr19:g.41518589T>C (hg19) ; chr19:g.41012684T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41012684T>C , CM000681.2:g.41012684T>C	GRCh38
NC_000019.9:g.41518589T>C , CM000681.1:g.41518589T>C	GRCh37
NC_000019.8:g.46210429T>C	NCBI36
NG_007929.1:g.26386T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324071.10:c.1163T>C MANE Select	ENSP00000324648.2:p.Val388Ala
ENST00000598834.2:c.1176+199T>C
ENST00000324071.8:c.1163T>C	ENSP00000324648.2:p.Val388Ala
ENST00000593831.1:c.455T>C	ENSP00000470582.1:p.Val152Ala
ENST00000597612.1:n.647+199T>C
NM_000767.4:c.1163T>C	NP_000758.1:p.Val388Ala
XM_005258569.3:c.1152+199T>C	XP_005258626.1:n.1152+199T>C
XM_006723050.2:c.1163T>C	XP_006723113.1:p.Val388Ala
XM_011526546.1:c.1153-132T>C	XP_011524848.1:n.1153-132T>C
XM_011526547.1:c.1152+199T>C	XP_011524849.1:n.1152+199T>C
XM_011526548.1:c.683T>C	XP_011524850.1:p.Val228Ala
XM_011526549.1:c.572T>C	XP_011524851.1:p.Val191Ala
XM_011526550.1:c.563T>C	XP_011524852.1:p.Val188Ala
NM_000767.5:c.1163T>C MANE Select	NP_000758.1:p.Val388Ala