Canonical Allele Identifier: CA2321024894

Gene: STXBP2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7647351C= , CM000681.2:g.7647351C=	GRCh38
NC_000019.9:g.7712237C= , CM000681.1:g.7712237C=	GRCh37
NC_000019.8:g.7618237C=	NCBI36
NG_016709.1:g.15247C= , LRG_165:g.15247C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000595866.2:c.*1493-3C=	ENSP00000469553.2:n.*1493-3C=
ENST00000600702.6:c.1538+104C=	ENSP00000471737.2:n.1538+104C=
ENST00000698368.1:c.*1642-3C=	ENSP00000513686.1:n.*1642-3C=
ENST00000698369.1:n.2689-3C=
ENST00000221283.10:c.1539-3C= MANE Select	ENSP00000221283.4:n.1539-3C=
ENST00000221283.9:c.1539-3C=	ENSP00000221283.4:n.1539-3C=
ENST00000414284.6:c.1530-3C=	ENSP00000409471.1:n.1530-3C=
ENST00000441779.6:c.1572-3C=	ENSP00000413606.2:n.1572-3C=
ENST00000595800.1:n.1453C=
ENST00000597068.5:c.*287-3C=	ENSP00000471327.1:n.*287-3C=
ENST00000599278.1:n.194-3C=
ENST00000599400.1:c.540-3C=
ENST00000599737.5:c.1246-3C=	ENSP00000471585.1:n.1246-3C=
ENST00000600702.5:c.621+104C=
ENST00000601061.1:n.397C=
ENST00000602355.1:c.144-3C=	ENSP00000473406.1:n.144-3C=
ENST00000622853.4:c.1539-3C=	ENSP00000480468.1:n.1539-3C=
NM_001127396.2:c.1530-3C=	NP_001120868.1:n.1530-3C=
NM_001272034.1:c.1572-3C=	NP_001258963.1:n.1572-3C=
NM_006949.3:c.1539-3C=	NP_008880.2:n.1539-3C=
NR_073560.1:n.1563-3C=
NM_006949.4:c.1539-3C= MANE Select	NP_008880.2:n.1539-3C=
NM_001127396.3:c.1530-3C=	NP_001120868.1:n.1530-3C=
NM_001272034.2:c.1572-3C=	NP_001258963.1:n.1572-3C=
NR_073560.2:n.1554-3C=