Canonical Allele Identifier: CA405984417

Gene: CYP2B6

Linked Data

• ClinVar Variation Id: 2327826
• ClinVar RCV Id: RCV004169795
• gnomAD v4: 19-41012376-A-G
• MyVariant Identifiers: chr19:g.41518281A>G (hg19) ; chr19:g.41012376A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41012376A>G , CM000681.2:g.41012376A>G	GRCh38
NC_000019.9:g.41518281A>G , CM000681.1:g.41518281A>G	GRCh37
NC_000019.8:g.46210121A>G	NCBI36
NG_007929.1:g.26078A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324071.10:c.1043A>G MANE Select	ENSP00000324648.2:p.Tyr348Cys
ENST00000598834.2:c.1067A>G
ENST00000324071.8:c.1043A>G	ENSP00000324648.2:p.Tyr348Cys
ENST00000593831.1:c.335A>G	ENSP00000470582.1:p.Tyr112Cys
ENST00000597612.1:n.538A>G
NM_000767.4:c.1043A>G	NP_000758.1:p.Tyr348Cys
XM_005258569.3:c.1043A>G	XP_005258626.1:p.Tyr348Cys
XM_006723050.2:c.1043A>G	XP_006723113.1:p.Tyr348Cys
XM_011526546.1:c.1043A>G	XP_011524848.1:p.Tyr348Cys
XM_011526547.1:c.1043A>G	XP_011524849.1:p.Tyr348Cys
XM_011526548.1:c.563A>G	XP_011524850.1:p.Tyr188Cys
XM_011526549.1:c.452A>G	XP_011524851.1:p.Tyr151Cys
XM_011526550.1:c.443A>G	XP_011524852.1:p.Tyr148Cys
NM_000767.5:c.1043A>G MANE Select	NP_000758.1:p.Tyr348Cys