Canonical Allele Identifier: CA505408100

Gene: STXBP2

Linked Data

• MyVariant Identifiers: chr19:g.7712369C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7647483C>A , CM000681.2:g.7647483C>A	GRCh38
NC_000019.9:g.7712369C>A , CM000681.1:g.7712369C>A	GRCh37
NC_000019.8:g.7618369C>A	NCBI36
NG_016709.1:g.15379C>A , LRG_165:g.15379C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000600702.6:c.1538+236C>A	ENSP00000471737.2:n.1538+236C>A
ENST00000221283.10:c.1668C>A MANE Select	ENSP00000221283.4:p.Ala556=
ENST00000221283.9:c.1668C>A	ENSP00000221283.4:p.Ala556=
ENST00000414284.6:c.1659C>A	ENSP00000409471.1:p.Ala553=
ENST00000441779.6:c.1701C>A	ENSP00000413606.2:p.Ala567=
ENST00000595800.1:n.1585C>A
ENST00000597068.5:c.*416C>A	ENSP00000471327.1:n.*416C>A
ENST00000599400.1:c.669C>A
ENST00000599737.5:c.1375C>A	ENSP00000471585.1:n.1375C>A
ENST00000600702.5:c.621+236C>A
ENST00000601061.1:n.529C>A
ENST00000602355.1:c.273C>A	ENSP00000473406.1:p.Ala91=
ENST00000622853.4:c.1668C>A	ENSP00000480468.1:p.Ala556=
NM_001127396.2:c.1659C>A	NP_001120868.1:p.Ala553=
NM_001272034.1:c.1701C>A	NP_001258963.1:p.Ala567=
NM_006949.3:c.1668C>A	NP_008880.2:p.Ala556=
NR_073560.1:n.1692C>A
NM_006949.4:c.1668C>A MANE Select	NP_008880.2:p.Ala556=
NM_001127396.3:c.1659C>A	NP_001120868.1:p.Ala553=
NM_001272034.2:c.1701C>A	NP_001258963.1:p.Ala567=
NR_073560.2:n.1683C>A