Canonical Allele Identifier: CA9143942

Gene: STXBP2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7643157_7643163dup , CM000681.2:g.7643157_7643163dup	GRCh38
NC_000019.9:g.7708043_7708049dup , CM000681.1:g.7708043_7708049dup	GRCh37
NC_000019.8:g.7614043_7614049dup	NCBI36
NG_016709.1:g.11053_11059dup , LRG_165:g.11053_11059dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000595866.2:c.*981-8_*981-2dup	ENSP00000469553.2:n.*981-8_*981-2dup
ENST00000600702.6:c.1027-8_1027-2dup	ENSP00000471737.2:n.1027-8_1027-2dup
ENST00000698367.1:n.1075-8_1075-2dup
ENST00000698368.1:c.*1130-8_*1130-2dup	ENSP00000513686.1:n.*1130-8_*1130-2dup
ENST00000698369.1:n.2177-8_2177-2dup
ENST00000698370.1:n.834-8_834-2dup
ENST00000698371.1:c.523-8_523-2dup	ENSP00000513688.1:n.523-8_523-2dup
ENST00000221283.10:c.1027-8_1027-2dup MANE Select	ENSP00000221283.4:n.1027-8_1027-2dup
ENST00000221283.9:c.1027-8_1027-2dup	ENSP00000221283.4:n.1027-8_1027-2dup
ENST00000414284.6:c.1018-8_1018-2dup	ENSP00000409471.1:n.1018-8_1018-2dup
ENST00000441779.6:c.1060-8_1060-2dup	ENSP00000413606.2:n.1060-8_1060-2dup
ENST00000594221.5:n.702-8_702-2dup
ENST00000595861.1:n.321-8_321-2dup
ENST00000597068.5:c.1026+109_1026+115dup	ENSP00000471327.1:n.1026+109_1026+115dup
ENST00000599737.5:c.830-8_830-2dup	ENSP00000471585.1:n.830-8_830-2dup
ENST00000600702.5:c.110-8_110-2dup
ENST00000622853.4:c.1027-8_1027-2dup	ENSP00000480468.1:n.1027-8_1027-2dup
NM_001127396.2:c.1018-8_1018-2dup	NP_001120868.1:n.1018-8_1018-2dup
NM_001272034.1:c.1060-8_1060-2dup	NP_001258963.1:n.1060-8_1060-2dup
NM_006949.3:c.1027-8_1027-2dup	NP_008880.2:n.1027-8_1027-2dup
NR_073560.1:n.1075+109_1075+115dup
XM_011528210.1:c.1027-8_1027-2dup	XP_011526512.1:n.1027-8_1027-2dup
XM_011528211.1:c.1026+109_1026+115dup	XP_011526513.1:n.1026+109_1026+115dup
XM_011528212.1:c.1027-8_1027-2dup	XP_011526514.1:n.1027-8_1027-2dup
XM_011528213.1:c.1027-8_1027-2dup	XP_011526515.1:n.1027-8_1027-2dup
XM_011528210.2:c.1027-8_1027-2dup	XP_011526512.1:n.1027-8_1027-2dup
XM_011528212.3:c.1027-8_1027-2dup	XP_011526514.1:n.1027-8_1027-2dup
XR_001753741.2:n.1065-8_1065-2dup
NM_006949.4:c.1027-8_1027-2dup MANE Select	NP_008880.2:n.1027-8_1027-2dup
NM_001127396.3:c.1018-8_1018-2dup	NP_001120868.1:n.1018-8_1018-2dup
NM_001272034.2:c.1060-8_1060-2dup	NP_001258963.1:n.1060-8_1060-2dup
NR_073560.2:n.1066+109_1066+115dup