Canonical Allele Identifier: CA403162062

Gene: STXBP2

Linked Data

• ClinVar Variation Id: 1508023
• ClinVar RCV Id: RCV002040310
• dbSNP Id: rs2032182835
• MyVariant Identifiers: chr19:g.7712313G>A (hg19) ; chr19:g.7647427G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7647427G>A , CM000681.2:g.7647427G>A	GRCh38
NC_000019.9:g.7712313G>A , CM000681.1:g.7712313G>A	GRCh37
NC_000019.8:g.7618313G>A	NCBI36
NG_016709.1:g.15323G>A , LRG_165:g.15323G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000595866.2:c.*1566G>A	ENSP00000469553.2:n.*1566G>A
ENST00000600702.6:c.1538+180G>A	ENSP00000471737.2:n.1538+180G>A
ENST00000698368.1:c.*1715G>A	ENSP00000513686.1:n.*1715G>A
ENST00000698369.1:n.2762G>A
ENST00000221283.10:c.1612G>A MANE Select	ENSP00000221283.4:p.Val538Ile
ENST00000221283.9:c.1612G>A	ENSP00000221283.4:p.Val538Ile
ENST00000414284.6:c.1603G>A	ENSP00000409471.1:p.Val535Ile
ENST00000441779.6:c.1645G>A	ENSP00000413606.2:p.Val549Ile
ENST00000595800.1:n.1529G>A
ENST00000597068.5:c.*360G>A	ENSP00000471327.1:n.*360G>A
ENST00000599278.1:n.267G>A
ENST00000599400.1:c.613G>A
ENST00000599737.5:c.1319G>A	ENSP00000471585.1:n.1319G>A
ENST00000600702.5:c.621+180G>A
ENST00000601061.1:n.473G>A
ENST00000602355.1:c.217G>A	ENSP00000473406.1:p.Val73Ile
ENST00000622853.4:c.1612G>A	ENSP00000480468.1:p.Val538Ile
NM_001127396.2:c.1603G>A	NP_001120868.1:p.Val535Ile
NM_001272034.1:c.1645G>A	NP_001258963.1:p.Val549Ile
NM_006949.3:c.1612G>A	NP_008880.2:p.Val538Ile
NR_073560.1:n.1636G>A
NM_006949.4:c.1612G>A MANE Select	NP_008880.2:p.Val538Ile
NM_001127396.3:c.1603G>A	NP_001120868.1:p.Val535Ile
NM_001272034.2:c.1645G>A	NP_001258963.1:p.Val549Ile
NR_073560.2:n.1627G>A