Canonical Allele Identifier: CA403162228

Gene: STXBP2

Linked Data

• ClinVar Variation Id: 1449911
• ClinVar RCV Id: RCV002004715
• dbSNP Id: rs1310801774
• gnomAD v2: 19-7712388-G-A
• gnomAD v4: 19-7647502-G-A
• MyVariant Identifiers: chr19:g.7712388G>A (hg19) ; chr19:g.7647502G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7647502G>A , CM000681.2:g.7647502G>A	GRCh38
NC_000019.9:g.7712388G>A , CM000681.1:g.7712388G>A	GRCh37
NC_000019.8:g.7618388G>A	NCBI36
NG_016709.1:g.15398G>A , LRG_165:g.15398G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000600702.6:c.1539-223G>A	ENSP00000471737.2:n.1539-223G>A
ENST00000221283.10:c.1687G>A MANE Select	ENSP00000221283.4:p.Val563Met
ENST00000221283.9:c.1687G>A	ENSP00000221283.4:p.Val563Met
ENST00000414284.6:c.1678G>A	ENSP00000409471.1:p.Val560Met
ENST00000441779.6:c.1720G>A	ENSP00000413606.2:p.Val574Met
ENST00000595800.1:n.1604G>A
ENST00000597068.5:c.*435G>A	ENSP00000471327.1:n.*435G>A
ENST00000599400.1:c.688G>A
ENST00000599737.5:c.1394G>A	ENSP00000471585.1:n.1394G>A
ENST00000600702.5:c.622-223G>A
ENST00000601061.1:n.548G>A
ENST00000602355.1:c.292G>A	ENSP00000473406.1:p.Val98Met
ENST00000622853.4:c.1686G>A	ENSP00000480468.1:p.Arg562=
NM_001127396.2:c.1678G>A	NP_001120868.1:p.Val560Met
NM_001272034.1:c.1720G>A	NP_001258963.1:p.Val574Met
NM_006949.3:c.1687G>A	NP_008880.2:p.Val563Met
NR_073560.1:n.1711G>A
NM_006949.4:c.1687G>A MANE Select	NP_008880.2:p.Val563Met
NM_001127396.3:c.1678G>A	NP_001120868.1:p.Val560Met
NM_001272034.2:c.1720G>A	NP_001258963.1:p.Val574Met
NR_073560.2:n.1702G>A