Canonical Allele Identifier: CA403161981

Gene: STXBP2

Linked Data

• MyVariant Identifiers: chr19:g.7712269A>T (hg19) ; chr19:g.7647383A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7647383A>T , CM000681.2:g.7647383A>T	GRCh38
NC_000019.9:g.7712269A>T , CM000681.1:g.7712269A>T	GRCh37
NC_000019.8:g.7618269A>T	NCBI36
NG_016709.1:g.15279A>T , LRG_165:g.15279A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000595866.2:c.*1522A>T	ENSP00000469553.2:n.*1522A>T
ENST00000600702.6:c.1538+136A>T	ENSP00000471737.2:n.1538+136A>T
ENST00000698368.1:c.*1671A>T	ENSP00000513686.1:n.*1671A>T
ENST00000698369.1:n.2718A>T
ENST00000221283.10:c.1568A>T MANE Select	ENSP00000221283.4:p.Lys523Met
ENST00000221283.9:c.1568A>T	ENSP00000221283.4:p.Lys523Met
ENST00000414284.6:c.1559A>T	ENSP00000409471.1:p.Lys520Met
ENST00000441779.6:c.1601A>T	ENSP00000413606.2:p.Lys534Met
ENST00000595800.1:n.1485A>T
ENST00000597068.5:c.*316A>T	ENSP00000471327.1:n.*316A>T
ENST00000599278.1:n.223A>T
ENST00000599400.1:c.569A>T
ENST00000599737.5:c.1275A>T	ENSP00000471585.1:n.1275A>T
ENST00000600702.5:c.621+136A>T
ENST00000601061.1:n.429A>T
ENST00000602355.1:c.173A>T	ENSP00000473406.1:p.Lys58Met
ENST00000622853.4:c.1568A>T	ENSP00000480468.1:p.Lys523Met
NM_001127396.2:c.1559A>T	NP_001120868.1:p.Lys520Met
NM_001272034.1:c.1601A>T	NP_001258963.1:p.Lys534Met
NM_006949.3:c.1568A>T	NP_008880.2:p.Lys523Met
NR_073560.1:n.1592A>T
NM_006949.4:c.1568A>T MANE Select	NP_008880.2:p.Lys523Met
NM_001127396.3:c.1559A>T	NP_001120868.1:p.Lys520Met
NM_001272034.2:c.1601A>T	NP_001258963.1:p.Lys534Met
NR_073560.2:n.1583A>T