Canonical Allele Identifier: CA2321024904

Gene: STXBP2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7647376A= , CM000681.2:g.7647376A=	GRCh38
NC_000019.9:g.7712262A= , CM000681.1:g.7712262A=	GRCh37
NC_000019.8:g.7618262A=	NCBI36
NG_016709.1:g.15272A= , LRG_165:g.15272A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000595866.2:c.*1515A=	ENSP00000469553.2:n.*1515A=
ENST00000600702.6:c.1538+129A=	ENSP00000471737.2:n.1538+129A=
ENST00000698368.1:c.*1664A=	ENSP00000513686.1:n.*1664A=
ENST00000698369.1:n.2711A=
ENST00000221283.10:c.1561A= MANE Select	ENSP00000221283.4:p.Lys521=
ENST00000221283.9:c.1561A=	ENSP00000221283.4:p.Lys521=
ENST00000414284.6:c.1552A=	ENSP00000409471.1:p.Lys518=
ENST00000441779.6:c.1594A=	ENSP00000413606.2:p.Lys532=
ENST00000595800.1:n.1478A=
ENST00000597068.5:c.*309A=	ENSP00000471327.1:n.*309A=
ENST00000599278.1:n.216A=
ENST00000599400.1:c.562A=
ENST00000599737.5:c.1268A=	ENSP00000471585.1:n.1268A=
ENST00000600702.5:c.621+129A=
ENST00000601061.1:n.422A=
ENST00000602355.1:c.166A=	ENSP00000473406.1:p.Lys56=
ENST00000622853.4:c.1561A=	ENSP00000480468.1:p.Lys521=
NM_001127396.2:c.1552A=	NP_001120868.1:p.Lys518=
NM_001272034.1:c.1594A=	NP_001258963.1:p.Lys532=
NM_006949.3:c.1561A=	NP_008880.2:p.Lys521=
NR_073560.1:n.1585A=
NM_006949.4:c.1561A= MANE Select	NP_008880.2:p.Lys521=
NM_001127396.3:c.1552A=	NP_001120868.1:p.Lys518=
NM_001272034.2:c.1594A=	NP_001258963.1:p.Lys532=
NR_073560.2:n.1576A=