Canonical Allele Identifier: CA403161974

Gene: STXBP2

Linked Data

• MyVariant Identifiers: chr19:g.7712266A>T (hg19) ; chr19:g.7647380A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7647380A>T , CM000681.2:g.7647380A>T	GRCh38
NC_000019.9:g.7712266A>T , CM000681.1:g.7712266A>T	GRCh37
NC_000019.8:g.7618266A>T	NCBI36
NG_016709.1:g.15276A>T , LRG_165:g.15276A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000595866.2:c.*1519A>T	ENSP00000469553.2:n.*1519A>T
ENST00000600702.6:c.1538+133A>T	ENSP00000471737.2:n.1538+133A>T
ENST00000698368.1:c.*1668A>T	ENSP00000513686.1:n.*1668A>T
ENST00000698369.1:n.2715A>T
ENST00000221283.10:c.1565A>T MANE Select	ENSP00000221283.4:p.Asn522Ile
ENST00000221283.9:c.1565A>T	ENSP00000221283.4:p.Asn522Ile
ENST00000414284.6:c.1556A>T	ENSP00000409471.1:p.Asn519Ile
ENST00000441779.6:c.1598A>T	ENSP00000413606.2:p.Asn533Ile
ENST00000595800.1:n.1482A>T
ENST00000597068.5:c.*313A>T	ENSP00000471327.1:n.*313A>T
ENST00000599278.1:n.220A>T
ENST00000599400.1:c.566A>T
ENST00000599737.5:c.1272A>T	ENSP00000471585.1:n.1272A>T
ENST00000600702.5:c.621+133A>T
ENST00000601061.1:n.426A>T
ENST00000602355.1:c.170A>T	ENSP00000473406.1:p.Asn57Ile
ENST00000622853.4:c.1565A>T	ENSP00000480468.1:p.Asn522Ile
NM_001127396.2:c.1556A>T	NP_001120868.1:p.Asn519Ile
NM_001272034.1:c.1598A>T	NP_001258963.1:p.Asn533Ile
NM_006949.3:c.1565A>T	NP_008880.2:p.Asn522Ile
NR_073560.1:n.1589A>T
NM_006949.4:c.1565A>T MANE Select	NP_008880.2:p.Asn522Ile
NM_001127396.3:c.1556A>T	NP_001120868.1:p.Asn519Ile
NM_001272034.2:c.1598A>T	NP_001258963.1:p.Asn533Ile
NR_073560.2:n.1580A>T