Canonical Allele Identifier: CA2321024969

Gene: STXBP2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7647508A= , CM000681.2:g.7647508A=	GRCh38
NC_000019.9:g.7712394A= , CM000681.1:g.7712394A=	GRCh37
NC_000019.8:g.7618394A=	NCBI36
NG_016709.1:g.15404A= , LRG_165:g.15404A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000600702.6:c.1539-217A=	ENSP00000471737.2:n.1539-217A=
ENST00000221283.10:c.1693A= MANE Select	ENSP00000221283.4:p.Ile565=
ENST00000221283.9:c.1693A=	ENSP00000221283.4:p.Ile565=
ENST00000414284.6:c.1684A=	ENSP00000409471.1:p.Ile562=
ENST00000441779.6:c.1726A=	ENSP00000413606.2:p.Ile576=
ENST00000595800.1:n.1610A=
ENST00000597068.5:c.*441A=	ENSP00000471327.1:n.*441A=
ENST00000599400.1:c.694A=
ENST00000599737.5:c.1400A=	ENSP00000471585.1:n.1400A=
ENST00000600702.5:c.622-217A=
ENST00000601061.1:n.554A=
ENST00000602355.1:c.298A=	ENSP00000473406.1:p.Ile100=
ENST00000622853.4:c.1692A=	ENSP00000480468.1:p.Ser564=
NM_001127396.2:c.1684A=	NP_001120868.1:p.Ile562=
NM_001272034.1:c.1726A=	NP_001258963.1:p.Ile576=
NM_006949.3:c.1693A=	NP_008880.2:p.Ile565=
NR_073560.1:n.1717A=
NM_006949.4:c.1693A= MANE Select	NP_008880.2:p.Ile565=
NM_001127396.3:c.1684A=	NP_001120868.1:p.Ile562=
NM_001272034.2:c.1726A=	NP_001258963.1:p.Ile576=
NR_073560.2:n.1708A=