Canonical Allele Identifier: CA403158363

Gene: STXBP2

Linked Data

• gnomAD v4: 19-7641780-C-A
• MyVariant Identifiers: chr19:g.7706666C>A (hg19) ; chr19:g.7641780C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7641780C>A , CM000681.2:g.7641780C>A	GRCh38
NC_000019.9:g.7706666C>A , CM000681.1:g.7706666C>A	GRCh37
NC_000019.8:g.7612666C>A	NCBI36
NG_016709.1:g.9676C>A , LRG_165:g.9676C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000595866.2:c.*459C>A	ENSP00000469553.2:n.*459C>A
ENST00000600702.6:c.505C>A	ENSP00000471737.2:p.Leu169Ile
ENST00000698367.1:n.553C>A
ENST00000698368.1:c.*608C>A	ENSP00000513686.1:n.*608C>A
ENST00000698369.1:n.1655C>A
ENST00000698370.1:n.312C>A
ENST00000698371.1:c.1C>A	ENSP00000513688.1:p.Leu1Ile
ENST00000221283.10:c.505C>A MANE Select	ENSP00000221283.4:p.Leu169Ile
ENST00000221283.9:c.505C>A	ENSP00000221283.4:p.Leu169Ile
ENST00000414284.6:c.496C>A	ENSP00000409471.1:p.Leu166Ile
ENST00000441779.6:c.538C>A	ENSP00000413606.2:p.Leu180Ile
ENST00000595866.1:c.604C>A
ENST00000595950.5:c.349C>A	ENSP00000471161.1:p.Leu117Ile
ENST00000597068.5:c.505C>A	ENSP00000471327.1:p.Leu169Ile
ENST00000598664.5:c.52-254C>A	ENSP00000472796.1:n.52-254C>A
ENST00000599648.1:n.339C>A
ENST00000599737.5:c.382-254C>A	ENSP00000471585.1:n.382-254C>A
ENST00000622853.4:c.505C>A	ENSP00000480468.1:p.Leu169Ile
NM_001127396.2:c.496C>A	NP_001120868.1:p.Leu166Ile
NM_001272034.1:c.538C>A	NP_001258963.1:p.Leu180Ile
NM_006949.3:c.505C>A	NP_008880.2:p.Leu169Ile
NR_073560.1:n.554C>A
XM_011528210.1:c.505C>A	XP_011526512.1:p.Leu169Ile
XM_011528211.1:c.505C>A	XP_011526513.1:p.Leu169Ile
XM_011528212.1:c.505C>A	XP_011526514.1:p.Leu169Ile
XM_011528213.1:c.505C>A	XP_011526515.1:p.Leu169Ile
XM_011528210.2:c.505C>A	XP_011526512.1:p.Leu169Ile
XM_011528212.3:c.505C>A	XP_011526514.1:p.Leu169Ile
XR_001753741.2:n.543C>A
NM_006949.4:c.505C>A MANE Select	NP_008880.2:p.Leu169Ile
NM_001127396.3:c.496C>A	NP_001120868.1:p.Leu166Ile
NM_001272034.2:c.538C>A	NP_001258963.1:p.Leu180Ile
NR_073560.2:n.545C>A