Canonical Allele Identifier: CA2321024951

Gene: STXBP2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7647472G= , CM000681.2:g.7647472G=	GRCh38
NC_000019.9:g.7712358G= , CM000681.1:g.7712358G=	GRCh37
NC_000019.8:g.7618358G=	NCBI36
NG_016709.1:g.15368G= , LRG_165:g.15368G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000595866.2:c.*1611G=	ENSP00000469553.2:n.*1611G=
ENST00000600702.6:c.1538+225G=	ENSP00000471737.2:n.1538+225G=
ENST00000698368.1:c.*1760G=	ENSP00000513686.1:n.*1760G=
ENST00000698369.1:n.2807G=
ENST00000221283.10:c.1657G= MANE Select	ENSP00000221283.4:p.Val553=
ENST00000221283.9:c.1657G=	ENSP00000221283.4:p.Val553=
ENST00000414284.6:c.1648G=	ENSP00000409471.1:p.Val550=
ENST00000441779.6:c.1690G=	ENSP00000413606.2:p.Val564=
ENST00000595800.1:n.1574G=
ENST00000597068.5:c.*405G=	ENSP00000471327.1:n.*405G=
ENST00000599400.1:c.658G=
ENST00000599737.5:c.1364G=	ENSP00000471585.1:n.1364G=
ENST00000600702.5:c.621+225G=
ENST00000601061.1:n.518G=
ENST00000602355.1:c.262G=	ENSP00000473406.1:p.Val88=
ENST00000622853.4:c.1657G=	ENSP00000480468.1:p.Val553=
NM_001127396.2:c.1648G=	NP_001120868.1:p.Val550=
NM_001272034.1:c.1690G=	NP_001258963.1:p.Val564=
NM_006949.3:c.1657G=	NP_008880.2:p.Val553=
NR_073560.1:n.1681G=
NM_006949.4:c.1657G= MANE Select	NP_008880.2:p.Val553=
NM_001127396.3:c.1648G=	NP_001120868.1:p.Val550=
NM_001272034.2:c.1690G=	NP_001258963.1:p.Val564=
NR_073560.2:n.1672G=