Canonical Allele Identifier: CA403161960

Gene: STXBP2

Linked Data

• gnomAD v4: 19-7647375-C-G
• MyVariant Identifiers: chr19:g.7712261C>G (hg19) ; chr19:g.7647375C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7647375C>G , CM000681.2:g.7647375C>G	GRCh38
NC_000019.9:g.7712261C>G , CM000681.1:g.7712261C>G	GRCh37
NC_000019.8:g.7618261C>G	NCBI36
NG_016709.1:g.15271C>G , LRG_165:g.15271C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000595866.2:c.*1514C>G	ENSP00000469553.2:n.*1514C>G
ENST00000600702.6:c.1538+128C>G	ENSP00000471737.2:n.1538+128C>G
ENST00000698368.1:c.*1663C>G	ENSP00000513686.1:n.*1663C>G
ENST00000698369.1:n.2710C>G
ENST00000221283.10:c.1560C>G MANE Select	ENSP00000221283.4:p.His520Gln
ENST00000221283.9:c.1560C>G	ENSP00000221283.4:p.His520Gln
ENST00000414284.6:c.1551C>G	ENSP00000409471.1:p.His517Gln
ENST00000441779.6:c.1593C>G	ENSP00000413606.2:p.His531Gln
ENST00000595800.1:n.1477C>G
ENST00000597068.5:c.*308C>G	ENSP00000471327.1:n.*308C>G
ENST00000599278.1:n.215C>G
ENST00000599400.1:c.561C>G
ENST00000599737.5:c.1267C>G	ENSP00000471585.1:n.1267C>G
ENST00000600702.5:c.621+128C>G
ENST00000601061.1:n.421C>G
ENST00000602355.1:c.165C>G	ENSP00000473406.1:p.His55Gln
ENST00000622853.4:c.1560C>G	ENSP00000480468.1:p.His520Gln
NM_001127396.2:c.1551C>G	NP_001120868.1:p.His517Gln
NM_001272034.1:c.1593C>G	NP_001258963.1:p.His531Gln
NM_006949.3:c.1560C>G	NP_008880.2:p.His520Gln
NR_073560.1:n.1584C>G
NM_006949.4:c.1560C>G MANE Select	NP_008880.2:p.His520Gln
NM_001127396.3:c.1551C>G	NP_001120868.1:p.His517Gln
NM_001272034.2:c.1593C>G	NP_001258963.1:p.His531Gln
NR_073560.2:n.1575C>G