Canonical Allele Identifier: CA9144277

Gene: STXBP2

Linked Data

• ClinVar Variation Id: 999072
• ClinVar RCV Id: RCV001295022
• dbSNP Id: rs374719886
• ExAC: 19:7712307 G / A
• gnomAD v2: 19-7712307-G-A
• gnomAD v4: 19-7647421-G-A
• MyVariant Identifiers: chr19:g.7712307G>A (hg19) ; chr19:g.7647421G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7647421G>A , CM000681.2:g.7647421G>A	GRCh38
NC_000019.9:g.7712307G>A , CM000681.1:g.7712307G>A	GRCh37
NC_000019.8:g.7618307G>A	NCBI36
NG_016709.1:g.15317G>A , LRG_165:g.15317G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000595866.2:c.*1560G>A	ENSP00000469553.2:n.*1560G>A
ENST00000600702.6:c.1538+174G>A	ENSP00000471737.2:n.1538+174G>A
ENST00000698368.1:c.*1709G>A	ENSP00000513686.1:n.*1709G>A
ENST00000698369.1:n.2756G>A
ENST00000221283.10:c.1606G>A MANE Select	ENSP00000221283.4:p.Val536Met
ENST00000221283.9:c.1606G>A	ENSP00000221283.4:p.Val536Met
ENST00000414284.6:c.1597G>A	ENSP00000409471.1:p.Val533Met
ENST00000441779.6:c.1639G>A	ENSP00000413606.2:p.Val547Met
ENST00000595800.1:n.1523G>A
ENST00000597068.5:c.*354G>A	ENSP00000471327.1:n.*354G>A
ENST00000599278.1:n.261G>A
ENST00000599400.1:c.607G>A
ENST00000599737.5:c.1313G>A	ENSP00000471585.1:n.1313G>A
ENST00000600702.5:c.621+174G>A
ENST00000601061.1:n.467G>A
ENST00000602355.1:c.211G>A	ENSP00000473406.1:p.Val71Met
ENST00000622853.4:c.1606G>A	ENSP00000480468.1:p.Val536Met
NM_001127396.2:c.1597G>A	NP_001120868.1:p.Val533Met
NM_001272034.1:c.1639G>A	NP_001258963.1:p.Val547Met
NM_006949.3:c.1606G>A	NP_008880.2:p.Val536Met
NR_073560.1:n.1630G>A
NM_006949.4:c.1606G>A MANE Select	NP_008880.2:p.Val536Met
NM_001127396.3:c.1597G>A	NP_001120868.1:p.Val533Met
NM_001272034.2:c.1639G>A	NP_001258963.1:p.Val547Met
NR_073560.2:n.1621G>A