Canonical Allele Identifier: CA403162072

Gene: STXBP2

Linked Data

• MyVariant Identifiers: chr19:g.7712317T>G (hg19) ; chr19:g.7647431T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7647431T>G , CM000681.2:g.7647431T>G	GRCh38
NC_000019.9:g.7712317T>G , CM000681.1:g.7712317T>G	GRCh37
NC_000019.8:g.7618317T>G	NCBI36
NG_016709.1:g.15327T>G , LRG_165:g.15327T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000595866.2:c.*1570T>G	ENSP00000469553.2:n.*1570T>G
ENST00000600702.6:c.1538+184T>G	ENSP00000471737.2:n.1538+184T>G
ENST00000698368.1:c.*1719T>G	ENSP00000513686.1:n.*1719T>G
ENST00000698369.1:n.2766T>G
ENST00000221283.10:c.1616T>G MANE Select	ENSP00000221283.4:p.Met539Arg
ENST00000221283.9:c.1616T>G	ENSP00000221283.4:p.Met539Arg
ENST00000414284.6:c.1607T>G	ENSP00000409471.1:p.Met536Arg
ENST00000441779.6:c.1649T>G	ENSP00000413606.2:p.Met550Arg
ENST00000595800.1:n.1533T>G
ENST00000597068.5:c.*364T>G	ENSP00000471327.1:n.*364T>G
ENST00000599278.1:n.271T>G
ENST00000599400.1:c.617T>G
ENST00000599737.5:c.1323T>G	ENSP00000471585.1:n.1323T>G
ENST00000600702.5:c.621+184T>G
ENST00000601061.1:n.477T>G
ENST00000602355.1:c.221T>G	ENSP00000473406.1:p.Met74Arg
ENST00000622853.4:c.1616T>G	ENSP00000480468.1:p.Met539Arg
NM_001127396.2:c.1607T>G	NP_001120868.1:p.Met536Arg
NM_001272034.1:c.1649T>G	NP_001258963.1:p.Met550Arg
NM_006949.3:c.1616T>G	NP_008880.2:p.Met539Arg
NR_073560.1:n.1640T>G
NM_006949.4:c.1616T>G MANE Select	NP_008880.2:p.Met539Arg
NM_001127396.3:c.1607T>G	NP_001120868.1:p.Met536Arg
NM_001272034.2:c.1649T>G	NP_001258963.1:p.Met550Arg
NR_073560.2:n.1631T>G