Canonical Allele Identifier: CA2321024892

Gene: STXBP2

Linked Data

• dbSNP Id: rs2032178781

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7647348G>A , CM000681.2:g.7647348G>A	GRCh38
NC_000019.9:g.7712234G>A , CM000681.1:g.7712234G>A	GRCh37
NC_000019.8:g.7618234G>A	NCBI36
NG_016709.1:g.15244G>A , LRG_165:g.15244G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000595866.2:c.*1493-6G>A	ENSP00000469553.2:n.*1493-6G>A
ENST00000600702.6:c.1538+101G>A	ENSP00000471737.2:n.1538+101G>A
ENST00000698368.1:c.*1642-6G>A	ENSP00000513686.1:n.*1642-6G>A
ENST00000698369.1:n.2689-6G>A
ENST00000221283.10:c.1539-6G>A MANE Select	ENSP00000221283.4:n.1539-6G>A
ENST00000221283.9:c.1539-6G>A	ENSP00000221283.4:n.1539-6G>A
ENST00000414284.6:c.1530-6G>A	ENSP00000409471.1:n.1530-6G>A
ENST00000441779.6:c.1572-6G>A	ENSP00000413606.2:n.1572-6G>A
ENST00000595800.1:n.1450G>A
ENST00000597068.5:c.*287-6G>A	ENSP00000471327.1:n.*287-6G>A
ENST00000599278.1:n.194-6G>A
ENST00000599400.1:c.540-6G>A
ENST00000599737.5:c.1246-6G>A	ENSP00000471585.1:n.1246-6G>A
ENST00000600702.5:c.621+101G>A
ENST00000601061.1:n.394G>A
ENST00000602355.1:c.144-6G>A	ENSP00000473406.1:n.144-6G>A
ENST00000622853.4:c.1539-6G>A	ENSP00000480468.1:n.1539-6G>A
NM_001127396.2:c.1530-6G>A	NP_001120868.1:n.1530-6G>A
NM_001272034.1:c.1572-6G>A	NP_001258963.1:n.1572-6G>A
NM_006949.3:c.1539-6G>A	NP_008880.2:n.1539-6G>A
NR_073560.1:n.1563-6G>A
NM_006949.4:c.1539-6G>A MANE Select	NP_008880.2:n.1539-6G>A
NM_001127396.3:c.1530-6G>A	NP_001120868.1:n.1530-6G>A
NM_001272034.2:c.1572-6G>A	NP_001258963.1:n.1572-6G>A
NR_073560.2:n.1554-6G>A