Canonical Allele Identifier: CA2321024937

Gene: STXBP2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7647436G= , CM000681.2:g.7647436G=	GRCh38
NC_000019.9:g.7712322G= , CM000681.1:g.7712322G=	GRCh37
NC_000019.8:g.7618322G=	NCBI36
NG_016709.1:g.15332G= , LRG_165:g.15332G=

Transcript Alleles

HGVS	Amino-acid Change
NM_006949.4:c.1621G= MANE Select	NP_008880.2:p.Gly541=
ENST00000221283.10:c.1621G= MANE Select	ENSP00000221283.4:p.Gly541=
NM_001127396.2:c.1612G=	NP_001120868.1:p.Gly538=
NM_001127396.3:c.1612G=	NP_001120868.1:p.Gly538=
NM_001272034.1:c.1654G=	NP_001258963.1:p.Gly552=
NM_001272034.2:c.1654G=	NP_001258963.1:p.Gly552=
NM_006949.3:c.1621G=	NP_008880.2:p.Gly541=
NR_073560.1:n.1645G=
NR_073560.2:n.1636G=
ENST00000221283.9:c.1621G=	ENSP00000221283.4:p.Gly541=
ENST00000414284.6:c.1612G=	ENSP00000409471.1:p.Gly538=
ENST00000441779.6:c.1654G=	ENSP00000413606.2:p.Gly552=
ENST00000595800.1:n.1538G=
ENST00000595866.2:c.*1575G=	ENSP00000469553.2:n.*1575G=
ENST00000597068.5:c.*369G=	ENSP00000471327.1:n.*369G=
ENST00000599278.1:n.276G=
ENST00000599400.1:c.622G=
ENST00000599737.5:c.1328G=	ENSP00000471585.1:n.1328G=
ENST00000600702.5:c.621+189G=
ENST00000600702.6:c.1538+189G=	ENSP00000471737.2:n.1538+189G=
ENST00000601061.1:n.482G=
ENST00000602355.1:c.226G=	ENSP00000473406.1:p.Gly76=
ENST00000622853.4:c.1621G=	ENSP00000480468.1:p.Gly541=
ENST00000698368.1:c.*1724G=	ENSP00000513686.1:n.*1724G=
ENST00000698369.1:n.2771G=