Canonical Allele Identifier: CA2321023663

Gene: STXBP2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7645196G= , CM000681.2:g.7645196G=	GRCh38
NC_000019.9:g.7710082G= , CM000681.1:g.7710082G=	GRCh37
NC_000019.8:g.7616082G=	NCBI36
NG_016709.1:g.13092G= , LRG_165:g.13092G=

Transcript Alleles

HGVS	Amino-acid Change
NM_006949.4:c.1247-1G= MANE Select	NP_008880.2:n.1247-1G=
ENST00000221283.10:c.1247-1G= MANE Select	ENSP00000221283.4:n.1247-1G=
NM_001127396.2:c.1238-1G=	NP_001120868.1:n.1238-1G=
NM_001127396.3:c.1238-1G=	NP_001120868.1:n.1238-1G=
NM_001272034.1:c.1280-1G=	NP_001258963.1:n.1280-1G=
NM_001272034.2:c.1280-1G=	NP_001258963.1:n.1280-1G=
NM_006949.3:c.1247-1G=	NP_008880.2:n.1247-1G=
NR_073560.1:n.1271-1G=
NR_073560.2:n.1262-1G=
ENST00000221283.9:c.1247-1G=	ENSP00000221283.4:n.1247-1G=
ENST00000414284.6:c.1238-1G=	ENSP00000409471.1:n.1238-1G=
ENST00000441779.6:c.1280-1G=	ENSP00000413606.2:n.1280-1G=
ENST00000593854.5:n.405-1G=
ENST00000595800.1:n.241-1G=
ENST00000595866.2:c.*1201-1G=	ENSP00000469553.2:n.*1201-1G=
ENST00000597068.5:c.1222-1G=	ENSP00000471327.1:n.1222-1G=
ENST00000599400.1:c.171-1G=
ENST00000599558.1:n.188-1G=
ENST00000599737.5:c.1050-1G=	ENSP00000471585.1:n.1050-1G=
ENST00000600702.5:c.330-1G=
ENST00000600702.6:c.1247-1G=	ENSP00000471737.2:n.1247-1G=
ENST00000601061.1:n.1G=
ENST00000622853.4:c.1247-1G=	ENSP00000480468.1:n.1247-1G=
ENST00000698368.1:c.*1350-1G=	ENSP00000513686.1:n.*1350-1G=
ENST00000698369.1:n.2397-1G=
ENST00000698370.1:n.1054-1G=
ENST00000698371.1:c.775-1G=	ENSP00000513688.1:n.775-1G=
XM_011528210.1:c.1247-1G=	XP_011526512.1:n.1247-1G=
XM_011528210.2:c.1247-1G=	XP_011526512.1:n.1247-1G=
XM_011528211.1:c.1166-1G=	XP_011526513.1:n.1166-1G=
XR_001753741.2:n.1317-1G=