Canonical Allele Identifier: CA9143774

Gene: STXBP2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7642243G>A , CM000681.2:g.7642243G>A	GRCh38
NC_000019.9:g.7707129G>A , CM000681.1:g.7707129G>A	GRCh37
NC_000019.8:g.7613129G>A	NCBI36
NG_016709.1:g.10139G>A , LRG_165:g.10139G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000595866.2:c.*658G>A	ENSP00000469553.2:n.*658G>A
ENST00000600702.6:c.704G>A	ENSP00000471737.2:p.Arg235Gln
ENST00000698367.1:n.752G>A
ENST00000698368.1:c.*807G>A	ENSP00000513686.1:n.*807G>A
ENST00000698369.1:n.1854G>A
ENST00000698370.1:n.511G>A
ENST00000698371.1:c.200G>A	ENSP00000513688.1:p.Arg67Gln
ENST00000221283.10:c.704G>A MANE Select	ENSP00000221283.4:p.Arg235Gln
ENST00000221283.9:c.704G>A	ENSP00000221283.4:p.Arg235Gln
ENST00000414284.6:c.695G>A	ENSP00000409471.1:p.Arg232Gln
ENST00000441779.6:c.737G>A	ENSP00000413606.2:p.Arg246Gln
ENST00000594221.5:n.150G>A
ENST00000597068.5:c.704G>A	ENSP00000471327.1:p.Arg235Gln
ENST00000598664.5:c.177G>A	ENSP00000472796.1:p.Pro59=
ENST00000599737.5:c.507G>A	ENSP00000471585.1:p.Pro169=
ENST00000622853.4:c.704G>A	ENSP00000480468.1:p.Arg235Gln
NM_001127396.2:c.695G>A	NP_001120868.1:p.Arg232Gln
NM_001272034.1:c.737G>A	NP_001258963.1:p.Arg246Gln
NM_006949.3:c.704G>A	NP_008880.2:p.Arg235Gln
NR_073560.1:n.753G>A
XM_011528210.1:c.704G>A	XP_011526512.1:p.Arg235Gln
XM_011528211.1:c.704G>A	XP_011526513.1:p.Arg235Gln
XM_011528212.1:c.704G>A	XP_011526514.1:p.Arg235Gln
XM_011528213.1:c.704G>A	XP_011526515.1:p.Arg235Gln
XM_011528210.2:c.704G>A	XP_011526512.1:p.Arg235Gln
XM_011528212.3:c.704G>A	XP_011526514.1:p.Arg235Gln
XR_001753741.2:n.742G>A
NM_006949.4:c.704G>A MANE Select	NP_008880.2:p.Arg235Gln
NM_001127396.3:c.695G>A	NP_001120868.1:p.Arg232Gln
NM_001272034.2:c.737G>A	NP_001258963.1:p.Arg246Gln
NR_073560.2:n.744G>A