Canonical Allele Identifier: CA403161920

Gene: STXBP2

Linked Data

• MyVariant Identifiers: chr19:g.7712244C>A (hg19) ; chr19:g.7647358C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7647358C>A , CM000681.2:g.7647358C>A	GRCh38
NC_000019.9:g.7712244C>A , CM000681.1:g.7712244C>A	GRCh37
NC_000019.8:g.7618244C>A	NCBI36
NG_016709.1:g.15254C>A , LRG_165:g.15254C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000595866.2:c.*1497C>A	ENSP00000469553.2:n.*1497C>A
ENST00000600702.6:c.1538+111C>A	ENSP00000471737.2:n.1538+111C>A
ENST00000698368.1:c.*1646C>A	ENSP00000513686.1:n.*1646C>A
ENST00000698369.1:n.2693C>A
ENST00000221283.10:c.1543C>A MANE Select	ENSP00000221283.4:p.Arg515Ser
ENST00000221283.9:c.1543C>A	ENSP00000221283.4:p.Arg515Ser
ENST00000414284.6:c.1534C>A	ENSP00000409471.1:p.Arg512Ser
ENST00000441779.6:c.1576C>A	ENSP00000413606.2:p.Arg526Ser
ENST00000595800.1:n.1460C>A
ENST00000597068.5:c.*291C>A	ENSP00000471327.1:n.*291C>A
ENST00000599278.1:n.198C>A
ENST00000599400.1:c.544C>A
ENST00000599737.5:c.1250C>A	ENSP00000471585.1:n.1250C>A
ENST00000600702.5:c.621+111C>A
ENST00000601061.1:n.404C>A
ENST00000602355.1:c.148C>A	ENSP00000473406.1:p.Arg50Ser
ENST00000622853.4:c.1543C>A	ENSP00000480468.1:p.Arg515Ser
NM_001127396.2:c.1534C>A	NP_001120868.1:p.Arg512Ser
NM_001272034.1:c.1576C>A	NP_001258963.1:p.Arg526Ser
NM_006949.3:c.1543C>A	NP_008880.2:p.Arg515Ser
NR_073560.1:n.1567C>A
NM_006949.4:c.1543C>A MANE Select	NP_008880.2:p.Arg515Ser
NM_001127396.3:c.1534C>A	NP_001120868.1:p.Arg512Ser
NM_001272034.2:c.1576C>A	NP_001258963.1:p.Arg526Ser
NR_073560.2:n.1558C>A