Canonical Allele Identifier: CA633162355

Gene: CYP2B6

Linked Data

• dbSNP Id: rs1363429909
• gnomAD v2: 19-41518636-AAACCAGACGCCTTC-A
• gnomAD v4: 19-41012731-AAACCAGACGCCTTC-A
• MyVariant Identifiers: chr19:g.41518637_41518650del (hg19) ; chr19:g.41012732_41012745del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41012734_41012747del , CM000681.2:g.41012734_41012747del	GRCh38
NC_000019.9:g.41518639_41518652del , CM000681.1:g.41518639_41518652del	GRCh37
NC_000019.8:g.46210479_46210492del	NCBI36
NG_007929.1:g.26436_26449del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324071.10:c.1213_1226del MANE Select	ENSP00000324648.2:p.Pro405SerfsTer2
ENST00000598834.2:c.1177-239_1177-226del
ENST00000324071.8:c.1213_1226del	ENSP00000324648.2:p.Pro405SerfsTer2
ENST00000593831.1:c.505_518del	ENSP00000470582.1:p.Pro169SerfsTer2
ENST00000597612.1:n.647+249_647+262del
NM_000767.4:c.1213_1226del	NP_000758.1:p.Pro405SerfsTer2
XM_005258569.3:c.1152+249_1152+262del	XP_005258626.1:n.1152+249_1152+262del
XM_006723050.2:c.1213_1226del	XP_006723113.1:p.Pro405SerfsTer2
XM_011526546.1:c.1153-82_1153-69del	XP_011524848.1:n.1153-82_1153-69del
XM_011526547.1:c.1153-239_1153-226del	XP_011524849.1:n.1153-239_1153-226del
XM_011526548.1:c.733_746del	XP_011524850.1:p.Pro245SerfsTer2
XM_011526549.1:c.622_635del	XP_011524851.1:p.Pro208SerfsTer2
XM_011526550.1:c.613_626del	XP_011524852.1:p.Pro205SerfsTer2
NM_000767.5:c.1213_1226del MANE Select	NP_000758.1:p.Pro405SerfsTer2