Canonical Allele Identifier: CA308499330

Gene: CYP2B6

Linked Data

• ClinVar Variation Id: 2410308
• ClinVar RCV Id: RCV004244023
• dbSNP Id: rs867126676
• gnomAD v2: 19-41518678-G-T
• gnomAD v3: 19-41012773-G-T
• gnomAD v4: 19-41012773-G-T
• MyVariant Identifiers: chr19:g.41518678G>T (hg19) ; chr19:g.41012773G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41012773G>T , CM000681.2:g.41012773G>T	GRCh38
NC_000019.9:g.41518678G>T , CM000681.1:g.41518678G>T	GRCh37
NC_000019.8:g.46210518G>T	NCBI36
NG_007929.1:g.26475G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324071.10:c.1252G>T MANE Select	ENSP00000324648.2:p.Gly418Trp
ENST00000598834.2:c.1177-200G>T
ENST00000324071.8:c.1252G>T	ENSP00000324648.2:p.Gly418Trp
ENST00000593831.1:c.544G>T	ENSP00000470582.1:p.Gly182Trp
ENST00000597612.1:n.647+288G>T
NM_000767.4:c.1252G>T	NP_000758.1:p.Gly418Trp
XM_005258569.3:c.1152+288G>T	XP_005258626.1:n.1152+288G>T
XM_006723050.2:c.1252G>T	XP_006723113.1:p.Gly418Trp
XM_011526546.1:c.1153-43G>T	XP_011524848.1:n.1153-43G>T
XM_011526547.1:c.1153-200G>T	XP_011524849.1:n.1153-200G>T
XM_011526548.1:c.772G>T	XP_011524850.1:p.Gly258Trp
XM_011526549.1:c.661G>T	XP_011524851.1:p.Gly221Trp
XM_011526550.1:c.652G>T	XP_011524852.1:p.Gly218Trp
NM_000767.5:c.1252G>T MANE Select	NP_000758.1:p.Gly418Trp