Canonical Allele Identifier: CA2321024911

Gene: STXBP2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7647395A= , CM000681.2:g.7647395A=	GRCh38
NC_000019.9:g.7712281A= , CM000681.1:g.7712281A=	GRCh37
NC_000019.8:g.7618281A=	NCBI36
NG_016709.1:g.15291A= , LRG_165:g.15291A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000595866.2:c.*1534A=	ENSP00000469553.2:n.*1534A=
ENST00000600702.6:c.1538+148A=	ENSP00000471737.2:n.1538+148A=
ENST00000698368.1:c.*1683A=	ENSP00000513686.1:n.*1683A=
ENST00000698369.1:n.2730A=
ENST00000221283.10:c.1580A= MANE Select	ENSP00000221283.4:p.Glu527=
ENST00000221283.9:c.1580A=	ENSP00000221283.4:p.Glu527=
ENST00000414284.6:c.1571A=	ENSP00000409471.1:p.Glu524=
ENST00000441779.6:c.1613A=	ENSP00000413606.2:p.Glu538=
ENST00000595800.1:n.1497A=
ENST00000597068.5:c.*328A=	ENSP00000471327.1:n.*328A=
ENST00000599278.1:n.235A=
ENST00000599400.1:c.581A=
ENST00000599737.5:c.1287A=	ENSP00000471585.1:n.1287A=
ENST00000600702.5:c.621+148A=
ENST00000601061.1:n.441A=
ENST00000602355.1:c.185A=	ENSP00000473406.1:p.Glu62=
ENST00000622853.4:c.1580A=	ENSP00000480468.1:p.Glu527=
NM_001127396.2:c.1571A=	NP_001120868.1:p.Glu524=
NM_001272034.1:c.1613A=	NP_001258963.1:p.Glu538=
NM_006949.3:c.1580A=	NP_008880.2:p.Glu527=
NR_073560.1:n.1604A=
NM_006949.4:c.1580A= MANE Select	NP_008880.2:p.Glu527=
NM_001127396.3:c.1571A=	NP_001120868.1:p.Glu524=
NM_001272034.2:c.1613A=	NP_001258963.1:p.Glu538=
NR_073560.2:n.1595A=