Canonical Allele Identifier: CA2321024966

Gene: STXBP2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7647503T= , CM000681.2:g.7647503T=	GRCh38
NC_000019.9:g.7712389T= , CM000681.1:g.7712389T=	GRCh37
NC_000019.8:g.7618389T=	NCBI36
NG_016709.1:g.15399T= , LRG_165:g.15399T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000600702.6:c.1539-222T=	ENSP00000471737.2:n.1539-222T=
ENST00000221283.10:c.1688T= MANE Select	ENSP00000221283.4:p.Val563=
ENST00000221283.9:c.1688T=	ENSP00000221283.4:p.Val563=
ENST00000414284.6:c.1679T=	ENSP00000409471.1:p.Val560=
ENST00000441779.6:c.1721T=	ENSP00000413606.2:p.Val574=
ENST00000595800.1:n.1605T=
ENST00000597068.5:c.*436T=	ENSP00000471327.1:n.*436T=
ENST00000599400.1:c.689T=
ENST00000599737.5:c.1395T=	ENSP00000471585.1:n.1395T=
ENST00000600702.5:c.622-222T=
ENST00000601061.1:n.549T=
ENST00000602355.1:c.293T=	ENSP00000473406.1:p.Val98=
ENST00000622853.4:c.1687T=	ENSP00000480468.1:p.Cys563=
NM_001127396.2:c.1679T=	NP_001120868.1:p.Val560=
NM_001272034.1:c.1721T=	NP_001258963.1:p.Val574=
NM_006949.3:c.1688T=	NP_008880.2:p.Val563=
NR_073560.1:n.1712T=
NM_006949.4:c.1688T= MANE Select	NP_008880.2:p.Val563=
NM_001127396.3:c.1679T=	NP_001120868.1:p.Val560=
NM_001272034.2:c.1721T=	NP_001258963.1:p.Val574=
NR_073560.2:n.1703T=