Canonical Allele Identifier: CA2321024924

Gene: STXBP2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7647412C= , CM000681.2:g.7647412C=	GRCh38
NC_000019.9:g.7712298C= , CM000681.1:g.7712298C=	GRCh37
NC_000019.8:g.7618298C=	NCBI36
NG_016709.1:g.15308C= , LRG_165:g.15308C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000595866.2:c.*1551C=	ENSP00000469553.2:n.*1551C=
ENST00000600702.6:c.1538+165C=	ENSP00000471737.2:n.1538+165C=
ENST00000698368.1:c.*1700C=	ENSP00000513686.1:n.*1700C=
ENST00000698369.1:n.2747C=
ENST00000221283.10:c.1597C= MANE Select	ENSP00000221283.4:p.Arg533=
ENST00000221283.9:c.1597C=	ENSP00000221283.4:p.Arg533=
ENST00000414284.6:c.1588C=	ENSP00000409471.1:p.Arg530=
ENST00000441779.6:c.1630C=	ENSP00000413606.2:p.Arg544=
ENST00000595800.1:n.1514C=
ENST00000597068.5:c.*345C=	ENSP00000471327.1:n.*345C=
ENST00000599278.1:n.252C=
ENST00000599400.1:c.598C=
ENST00000599737.5:c.1304C=	ENSP00000471585.1:n.1304C=
ENST00000600702.5:c.621+165C=
ENST00000601061.1:n.458C=
ENST00000602355.1:c.202C=	ENSP00000473406.1:p.Arg68=
ENST00000622853.4:c.1597C=	ENSP00000480468.1:p.Arg533=
NM_001127396.2:c.1588C=	NP_001120868.1:p.Arg530=
NM_001272034.1:c.1630C=	NP_001258963.1:p.Arg544=
NM_006949.3:c.1597C=	NP_008880.2:p.Arg533=
NR_073560.1:n.1621C=
NM_006949.4:c.1597C= MANE Select	NP_008880.2:p.Arg533=
NM_001127396.3:c.1588C=	NP_001120868.1:p.Arg530=
NM_001272034.2:c.1630C=	NP_001258963.1:p.Arg544=
NR_073560.2:n.1612C=