Canonical Allele Identifier: CA2321024988

Gene: STXBP2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7647536G= , CM000681.2:g.7647536G=	GRCh38
NC_000019.9:g.7712422G= , CM000681.1:g.7712422G=	GRCh37
NC_000019.8:g.7618422G=	NCBI36
NG_016709.1:g.15432G= , LRG_165:g.15432G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000600702.6:c.1539-189G=	ENSP00000471737.2:n.1539-189G=
ENST00000221283.10:c.1696+25G= MANE Select	ENSP00000221283.4:n.1696+25G=
ENST00000221283.9:c.1696+25G=	ENSP00000221283.4:n.1696+25G=
ENST00000414284.6:c.1687+25G=	ENSP00000409471.1:n.1687+25G=
ENST00000441779.6:c.1729+25G=	ENSP00000413606.2:n.1729+25G=
ENST00000595800.1:n.1638G=
ENST00000597068.5:c.*444+25G=	ENSP00000471327.1:n.*444+25G=
ENST00000599400.1:c.697+25G=
ENST00000599737.5:c.1403+25G=	ENSP00000471585.1:n.1403+25G=
ENST00000600702.5:c.622-189G=
ENST00000601061.1:n.557+25G=
ENST00000602355.1:c.301+25G=	ENSP00000473406.1:n.301+25G=
ENST00000622853.4:c.1695+25G=	ENSP00000480468.1:n.1695+25G=
NM_001127396.2:c.1687+25G=	NP_001120868.1:n.1687+25G=
NM_001272034.1:c.1729+25G=	NP_001258963.1:n.1729+25G=
NM_006949.3:c.1696+25G=	NP_008880.2:n.1696+25G=
NR_073560.1:n.1720+25G=
NM_006949.4:c.1696+25G= MANE Select	NP_008880.2:n.1696+25G=
NM_001127396.3:c.1687+25G=	NP_001120868.1:n.1687+25G=
NM_001272034.2:c.1729+25G=	NP_001258963.1:n.1729+25G=
NR_073560.2:n.1711+25G=