Canonical Allele Identifier: CA403158368

Gene: STXBP2

Linked Data

• MyVariant Identifiers: chr19:g.7706667T>G (hg19) ; chr19:g.7641781T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7641781T>G , CM000681.2:g.7641781T>G	GRCh38
NC_000019.9:g.7706667T>G , CM000681.1:g.7706667T>G	GRCh37
NC_000019.8:g.7612667T>G	NCBI36
NG_016709.1:g.9677T>G , LRG_165:g.9677T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000595866.2:c.*460T>G	ENSP00000469553.2:n.*460T>G
ENST00000600702.6:c.506T>G	ENSP00000471737.2:p.Leu169Arg
ENST00000698367.1:n.554T>G
ENST00000698368.1:c.*609T>G	ENSP00000513686.1:n.*609T>G
ENST00000698369.1:n.1656T>G
ENST00000698370.1:n.313T>G
ENST00000698371.1:c.2T>G	ENSP00000513688.1:p.Leu1Arg
ENST00000221283.10:c.506T>G MANE Select	ENSP00000221283.4:p.Leu169Arg
ENST00000221283.9:c.506T>G	ENSP00000221283.4:p.Leu169Arg
ENST00000414284.6:c.497T>G	ENSP00000409471.1:p.Leu166Arg
ENST00000441779.6:c.539T>G	ENSP00000413606.2:p.Leu180Arg
ENST00000595866.1:c.605T>G
ENST00000595950.5:c.350T>G	ENSP00000471161.1:p.Leu117Arg
ENST00000597068.5:c.506T>G	ENSP00000471327.1:p.Leu169Arg
ENST00000598664.5:c.52-253T>G	ENSP00000472796.1:n.52-253T>G
ENST00000599648.1:n.340T>G
ENST00000599737.5:c.382-253T>G	ENSP00000471585.1:n.382-253T>G
ENST00000622853.4:c.506T>G	ENSP00000480468.1:p.Leu169Arg
NM_001127396.2:c.497T>G	NP_001120868.1:p.Leu166Arg
NM_001272034.1:c.539T>G	NP_001258963.1:p.Leu180Arg
NM_006949.3:c.506T>G	NP_008880.2:p.Leu169Arg
NR_073560.1:n.555T>G
XM_011528210.1:c.506T>G	XP_011526512.1:p.Leu169Arg
XM_011528211.1:c.506T>G	XP_011526513.1:p.Leu169Arg
XM_011528212.1:c.506T>G	XP_011526514.1:p.Leu169Arg
XM_011528213.1:c.506T>G	XP_011526515.1:p.Leu169Arg
XM_011528210.2:c.506T>G	XP_011526512.1:p.Leu169Arg
XM_011528212.3:c.506T>G	XP_011526514.1:p.Leu169Arg
XR_001753741.2:n.544T>G
NM_006949.4:c.506T>G MANE Select	NP_008880.2:p.Leu169Arg
NM_001127396.3:c.497T>G	NP_001120868.1:p.Leu166Arg
NM_001272034.2:c.539T>G	NP_001258963.1:p.Leu180Arg
NR_073560.2:n.546T>G