Canonical Allele Identifier: CA882289457

Gene: CYP2B6

Linked Data

• dbSNP Id: rs1452626573
• gnomAD v3: 19-41012879-AAAAC-A
• gnomAD v4: 19-41012879-AAAAC-A
• MyVariant Identifiers: chr19:g.41518785_41518788del (hg19) ; chr19:g.41012880_41012883del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41012882_41012885del , CM000681.2:g.41012882_41012885del	GRCh38
NC_000019.9:g.41518787_41518790del , CM000681.1:g.41518787_41518790del	GRCh37
NC_000019.8:g.46210627_46210630del	NCBI36
NG_007929.1:g.26584_26587del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324071.10:c.1294+67_1294+70del MANE Select	ENSP00000324648.2:n.1294+67_1294+70del
ENST00000598834.2:c.1177-91_1177-88del
ENST00000324071.8:c.1294+67_1294+70del	ENSP00000324648.2:n.1294+67_1294+70del
ENST00000593831.1:c.586+67_586+70del	ENSP00000470582.1:n.586+67_586+70del
ENST00000597612.1:n.647+397_647+400del
NM_000767.4:c.1294+67_1294+70del	NP_000758.1:n.1294+67_1294+70del
XM_005258569.3:c.1152+397_1152+400del	XP_005258626.1:n.1152+397_1152+400del
XM_006723050.2:c.1294+67_1294+70del	XP_006723113.1:n.1294+67_1294+70del
XM_011526546.1:c.1219_1222del	XP_011524848.1:p.Thr407ArgfsTer7
XM_011526547.1:c.1153-91_1153-88del	XP_011524849.1:n.1153-91_1153-88del
XM_011526548.1:c.814+67_814+70del	XP_011524850.1:n.814+67_814+70del
XM_011526549.1:c.703+67_703+70del	XP_011524851.1:n.703+67_703+70del
XM_011526550.1:c.694+67_694+70del	XP_011524852.1:n.694+67_694+70del
NM_000767.5:c.1294+67_1294+70del MANE Select	NP_000758.1:n.1294+67_1294+70del