Canonical Allele Identifier: CA9455551

Gene: CYP2B6

Linked Data

• dbSNP Id: rs778242648
• ExAC: 19:41518761 C / G
• gnomAD v2: 19-41518761-C-G
• gnomAD v4: 19-41012856-C-G
• MyVariant Identifiers: chr19:g.41518761C>G (hg19) ; chr19:g.41012856C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41012856C>G , CM000681.2:g.41012856C>G	GRCh38
NC_000019.9:g.41518761C>G , CM000681.1:g.41518761C>G	GRCh37
NC_000019.8:g.46210601C>G	NCBI36
NG_007929.1:g.26558C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324071.10:c.1294+41C>G MANE Select	ENSP00000324648.2:n.1294+41C>G
ENST00000598834.2:c.1177-117C>G
ENST00000324071.8:c.1294+41C>G	ENSP00000324648.2:n.1294+41C>G
ENST00000593831.1:c.586+41C>G	ENSP00000470582.1:n.586+41C>G
ENST00000597612.1:n.647+371C>G
NM_000767.4:c.1294+41C>G	NP_000758.1:n.1294+41C>G
XM_005258569.3:c.1152+371C>G	XP_005258626.1:n.1152+371C>G
XM_006723050.2:c.1294+41C>G	XP_006723113.1:n.1294+41C>G
XM_011526546.1:c.1193C>G	XP_011524848.1:p.Ala398Gly
XM_011526547.1:c.1153-117C>G	XP_011524849.1:n.1153-117C>G
XM_011526548.1:c.814+41C>G	XP_011524850.1:n.814+41C>G
XM_011526549.1:c.703+41C>G	XP_011524851.1:n.703+41C>G
XM_011526550.1:c.694+41C>G	XP_011524852.1:n.694+41C>G
NM_000767.5:c.1294+41C>G MANE Select	NP_000758.1:n.1294+41C>G