Canonical Allele Identifier: CA403162027

Gene: STXBP2

Linked Data

• dbSNP Id: rs746118454
• gnomAD v2: 19-7712293-G-A
• gnomAD v4: 19-7647407-G-A
• MyVariant Identifiers: chr19:g.7712293G>A (hg19) ; chr19:g.7647407G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7647407G>A , CM000681.2:g.7647407G>A	GRCh38
NC_000019.9:g.7712293G>A , CM000681.1:g.7712293G>A	GRCh37
NC_000019.8:g.7618293G>A	NCBI36
NG_016709.1:g.15303G>A , LRG_165:g.15303G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000595866.2:c.*1546G>A	ENSP00000469553.2:n.*1546G>A
ENST00000600702.6:c.1538+160G>A	ENSP00000471737.2:n.1538+160G>A
ENST00000698368.1:c.*1695G>A	ENSP00000513686.1:n.*1695G>A
ENST00000698369.1:n.2742G>A
ENST00000221283.10:c.1592G>A MANE Select	ENSP00000221283.4:p.Gly531Asp
ENST00000221283.9:c.1592G>A	ENSP00000221283.4:p.Gly531Asp
ENST00000414284.6:c.1583G>A	ENSP00000409471.1:p.Gly528Asp
ENST00000441779.6:c.1625G>A	ENSP00000413606.2:p.Gly542Asp
ENST00000595800.1:n.1509G>A
ENST00000597068.5:c.*340G>A	ENSP00000471327.1:n.*340G>A
ENST00000599278.1:n.247G>A
ENST00000599400.1:c.593G>A
ENST00000599737.5:c.1299G>A	ENSP00000471585.1:n.1299G>A
ENST00000600702.5:c.621+160G>A
ENST00000601061.1:n.453G>A
ENST00000602355.1:c.197G>A	ENSP00000473406.1:p.Gly66Asp
ENST00000622853.4:c.1592G>A	ENSP00000480468.1:p.Gly531Asp
NM_001127396.2:c.1583G>A	NP_001120868.1:p.Gly528Asp
NM_001272034.1:c.1625G>A	NP_001258963.1:p.Gly542Asp
NM_006949.3:c.1592G>A	NP_008880.2:p.Gly531Asp
NR_073560.1:n.1616G>A
NM_006949.4:c.1592G>A MANE Select	NP_008880.2:p.Gly531Asp
NM_001127396.3:c.1583G>A	NP_001120868.1:p.Gly528Asp
NM_001272034.2:c.1625G>A	NP_001258963.1:p.Gly542Asp
NR_073560.2:n.1607G>A