Canonical Allele Identifier: CA2321024315

Gene: STXBP2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7646322C= , CM000681.2:g.7646322C=	GRCh38
NC_000019.9:g.7711208C= , CM000681.1:g.7711208C=	GRCh37
NC_000019.8:g.7617208C=	NCBI36
NG_016709.1:g.14218C= , LRG_165:g.14218C=

Transcript Alleles

HGVS	Amino-acid Change
NM_006949.4:c.1430C= MANE Select	NP_008880.2:p.Pro477=
ENST00000221283.10:c.1430C= MANE Select	ENSP00000221283.4:p.Pro477=
NM_001127396.2:c.1421C=	NP_001120868.1:p.Pro474=
NM_001127396.3:c.1421C=	NP_001120868.1:p.Pro474=
NM_001272034.1:c.1463C=	NP_001258963.1:p.Pro488=
NM_001272034.2:c.1463C=	NP_001258963.1:p.Pro488=
NM_006949.3:c.1430C=	NP_008880.2:p.Pro477=
NR_073560.1:n.1454C=
NR_073560.2:n.1445C=
ENST00000221283.9:c.1430C=	ENSP00000221283.4:p.Pro477=
ENST00000414284.6:c.1421C=	ENSP00000409471.1:p.Pro474=
ENST00000441779.6:c.1463C=	ENSP00000413606.2:p.Pro488=
ENST00000593854.5:n.588C=
ENST00000595800.1:n.424C=
ENST00000595866.2:c.*1384C=	ENSP00000469553.2:n.*1384C=
ENST00000597068.5:c.*178C=	ENSP00000471327.1:n.*178C=
ENST00000599400.1:c.431C=
ENST00000599737.5:c.1160-840C=	ENSP00000471585.1:n.1160-840C=
ENST00000600702.5:c.513C=
ENST00000600702.6:c.1430C=	ENSP00000471737.2:p.Pro477=
ENST00000601061.1:n.185C=
ENST00000602355.1:c.35C=	ENSP00000473406.1:p.Pro12=
ENST00000622853.4:c.1430C=	ENSP00000480468.1:p.Pro477=
ENST00000698368.1:c.*1533C=	ENSP00000513686.1:n.*1533C=
ENST00000698369.1:n.2580C=
ENST00000698371.1:c.958C=	ENSP00000513688.1:n.958C=
XR_001753741.2:n.1500C=