Canonical Allele Identifier: CA505408083

Gene: STXBP2

Linked Data

• MyVariant Identifiers: chr19:g.7712345G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7647459G>A , CM000681.2:g.7647459G>A	GRCh38
NC_000019.9:g.7712345G>A , CM000681.1:g.7712345G>A	GRCh37
NC_000019.8:g.7618345G>A	NCBI36
NG_016709.1:g.15355G>A , LRG_165:g.15355G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000595866.2:c.*1598G>A	ENSP00000469553.2:n.*1598G>A
ENST00000600702.6:c.1538+212G>A	ENSP00000471737.2:n.1538+212G>A
ENST00000698368.1:c.*1747G>A	ENSP00000513686.1:n.*1747G>A
ENST00000698369.1:n.2794G>A
ENST00000221283.10:c.1644G>A MANE Select	ENSP00000221283.4:p.Arg548=
ENST00000221283.9:c.1644G>A	ENSP00000221283.4:p.Arg548=
ENST00000414284.6:c.1635G>A	ENSP00000409471.1:p.Arg545=
ENST00000441779.6:c.1677G>A	ENSP00000413606.2:p.Arg559=
ENST00000595800.1:n.1561G>A
ENST00000597068.5:c.*392G>A	ENSP00000471327.1:n.*392G>A
ENST00000599400.1:c.645G>A
ENST00000599737.5:c.1351G>A	ENSP00000471585.1:n.1351G>A
ENST00000600702.5:c.621+212G>A
ENST00000601061.1:n.505G>A
ENST00000602355.1:c.249G>A	ENSP00000473406.1:p.Arg83=
ENST00000622853.4:c.1644G>A	ENSP00000480468.1:p.Arg548=
NM_001127396.2:c.1635G>A	NP_001120868.1:p.Arg545=
NM_001272034.1:c.1677G>A	NP_001258963.1:p.Arg559=
NM_006949.3:c.1644G>A	NP_008880.2:p.Arg548=
NR_073560.1:n.1668G>A
NM_006949.4:c.1644G>A MANE Select	NP_008880.2:p.Arg548=
NM_001127396.3:c.1635G>A	NP_001120868.1:p.Arg545=
NM_001272034.2:c.1677G>A	NP_001258963.1:p.Arg559=
NR_073560.2:n.1659G>A