Canonical Allele Identifier: CA9143622

Gene: STXBP2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7641006_7641012dup , CM000681.2:g.7641006_7641012dup	GRCh38
NC_000019.9:g.7705892_7705898dup , CM000681.1:g.7705892_7705898dup	GRCh37
NC_000019.8:g.7611892_7611898dup	NCBI36
NG_016709.1:g.8902_8908dup , LRG_165:g.8902_8908dup

Transcript Alleles

HGVS	Amino-acid Change
NM_006949.4:c.429+3_429+9dup MANE Select	NP_008880.2:n.429+3_429+9dup
ENST00000221283.10:c.429+3_429+9dup MANE Select	ENSP00000221283.4:n.429+3_429+9dup
NM_001127396.2:c.420+3_420+9dup	NP_001120868.1:n.420+3_420+9dup
NM_001127396.3:c.420+3_420+9dup	NP_001120868.1:n.420+3_420+9dup
NM_001272034.1:c.462+3_462+9dup	NP_001258963.1:n.462+3_462+9dup
NM_001272034.2:c.462+3_462+9dup	NP_001258963.1:n.462+3_462+9dup
NM_006949.3:c.429+3_429+9dup	NP_008880.2:n.429+3_429+9dup
NR_073560.1:n.478+3_478+9dup
NR_073560.2:n.469+3_469+9dup
ENST00000221283.9:c.429+3_429+9dup	ENSP00000221283.4:n.429+3_429+9dup
ENST00000414284.6:c.420+3_420+9dup	ENSP00000409471.1:n.420+3_420+9dup
ENST00000441779.6:c.462+3_462+9dup	ENSP00000413606.2:n.462+3_462+9dup
ENST00000595866.1:c.528+3_528+9dup
ENST00000595866.2:c.*383+3_*383+9dup	ENSP00000469553.2:n.*383+3_*383+9dup
ENST00000595950.5:c.273+3_273+9dup	ENSP00000471161.1:n.273+3_273+9dup
ENST00000597068.5:c.429+3_429+9dup	ENSP00000471327.1:n.429+3_429+9dup
ENST00000598664.5:c.52-1028_52-1022dup	ENSP00000472796.1:n.52-1028_52-1022dup
ENST00000599648.1:n.263+3_263+9dup
ENST00000599737.5:c.381+3_381+9dup	ENSP00000471585.1:n.381+3_381+9dup
ENST00000600702.6:c.429+3_429+9dup	ENSP00000471737.2:n.429+3_429+9dup
ENST00000612033.1:c.993_999dup	ENSP00000478797.1:p.Gly334ThrfsTer?
ENST00000622853.4:c.429+3_429+9dup	ENSP00000480468.1:n.429+3_429+9dup
ENST00000698367.1:n.477+3_477+9dup
ENST00000698368.1:c.*532+3_*532+9dup	ENSP00000513686.1:n.*532+3_*532+9dup
ENST00000698369.1:n.1579+3_1579+9dup
ENST00000698370.1:n.236+3_236+9dup
XM_011528210.1:c.429+3_429+9dup	XP_011526512.1:n.429+3_429+9dup
XM_011528210.2:c.429+3_429+9dup	XP_011526512.1:n.429+3_429+9dup
XM_011528211.1:c.429+3_429+9dup	XP_011526513.1:n.429+3_429+9dup
XM_011528212.1:c.429+3_429+9dup	XP_011526514.1:n.429+3_429+9dup
XM_011528212.3:c.429+3_429+9dup	XP_011526514.1:n.429+3_429+9dup
XM_011528213.1:c.429+3_429+9dup	XP_011526515.1:n.429+3_429+9dup
XR_001753741.2:n.467+3_467+9dup