Canonical Allele Identifier: CA505408044

Gene: STXBP2

Linked Data

• gnomAD v4: 19-7647399-C-G
• MyVariant Identifiers: chr19:g.7712285C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7647399C>G , CM000681.2:g.7647399C>G	GRCh38
NC_000019.9:g.7712285C>G , CM000681.1:g.7712285C>G	GRCh37
NC_000019.8:g.7618285C>G	NCBI36
NG_016709.1:g.15295C>G , LRG_165:g.15295C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000595866.2:c.*1538C>G	ENSP00000469553.2:n.*1538C>G
ENST00000600702.6:c.1538+152C>G	ENSP00000471737.2:n.1538+152C>G
ENST00000698368.1:c.*1687C>G	ENSP00000513686.1:n.*1687C>G
ENST00000698369.1:n.2734C>G
ENST00000221283.10:c.1584C>G MANE Select	ENSP00000221283.4:p.Ala528=
ENST00000221283.9:c.1584C>G	ENSP00000221283.4:p.Ala528=
ENST00000414284.6:c.1575C>G	ENSP00000409471.1:p.Ala525=
ENST00000441779.6:c.1617C>G	ENSP00000413606.2:p.Ala539=
ENST00000595800.1:n.1501C>G
ENST00000597068.5:c.*332C>G	ENSP00000471327.1:n.*332C>G
ENST00000599278.1:n.239C>G
ENST00000599400.1:c.585C>G
ENST00000599737.5:c.1291C>G	ENSP00000471585.1:n.1291C>G
ENST00000600702.5:c.621+152C>G
ENST00000601061.1:n.445C>G
ENST00000602355.1:c.189C>G	ENSP00000473406.1:p.Ala63=
ENST00000622853.4:c.1584C>G	ENSP00000480468.1:p.Ala528=
NM_001127396.2:c.1575C>G	NP_001120868.1:p.Ala525=
NM_001272034.1:c.1617C>G	NP_001258963.1:p.Ala539=
NM_006949.3:c.1584C>G	NP_008880.2:p.Ala528=
NR_073560.1:n.1608C>G
NM_006949.4:c.1584C>G MANE Select	NP_008880.2:p.Ala528=
NM_001127396.3:c.1575C>G	NP_001120868.1:p.Ala525=
NM_001272034.2:c.1617C>G	NP_001258963.1:p.Ala539=
NR_073560.2:n.1599C>G