Canonical Allele Identifier: CA507537727

Gene: CYP2B6

Linked Data

• dbSNP Id: rs1329894263
• gnomAD v2: 19-41518372-AG-A
• gnomAD v4: 19-41012467-AG-A
• MyVariant Identifiers: chr19:g.41518373del (hg19) ; chr19:g.41012468del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41012470del , CM000681.2:g.41012470del	GRCh38
NC_000019.9:g.41518375del , CM000681.1:g.41518375del	GRCh37
NC_000019.8:g.46210215del	NCBI36
NG_007929.1:g.26172del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324071.10:c.1137del MANE Select	ENSP00000324648.2:p.Tyr380ThrfsTer13
ENST00000598834.2:c.1161del
ENST00000324071.8:c.1137del	ENSP00000324648.2:p.Tyr380ThrfsTer13
ENST00000593831.1:c.429del	ENSP00000470582.1:p.Tyr144ThrfsTer13
ENST00000597612.1:n.632del
NM_000767.4:c.1137del	NP_000758.1:p.Tyr380ThrfsTer13
XM_005258569.3:c.1137del	XP_005258626.1:p.Tyr380ThrfsTer12
XM_006723050.2:c.1137del	XP_006723113.1:p.Tyr380ThrfsTer13
XM_011526546.1:c.1137del	XP_011524848.1:p.Tyr380ThrfsTer6
XM_011526547.1:c.1137del	XP_011524849.1:p.Tyr380ThrfsTer?
XM_011526548.1:c.657del	XP_011524850.1:p.Tyr220ThrfsTer13
XM_011526549.1:c.546del	XP_011524851.1:p.Tyr183ThrfsTer13
XM_011526550.1:c.537del	XP_011524852.1:p.Tyr180ThrfsTer13
NM_000767.5:c.1137del MANE Select	NP_000758.1:p.Tyr380ThrfsTer13