Canonical Allele Identifier: CA403158352

Gene: STXBP2

Linked Data

• gnomAD v4: 19-7641772-C-A
• MyVariant Identifiers: chr19:g.7706658C>A (hg19) ; chr19:g.7641772C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7641772C>A , CM000681.2:g.7641772C>A	GRCh38
NC_000019.9:g.7706658C>A , CM000681.1:g.7706658C>A	GRCh37
NC_000019.8:g.7612658C>A	NCBI36
NG_016709.1:g.9668C>A , LRG_165:g.9668C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000595866.2:c.*451C>A	ENSP00000469553.2:n.*451C>A
ENST00000600702.6:c.497C>A	ENSP00000471737.2:p.Thr166Lys
ENST00000698367.1:n.545C>A
ENST00000698368.1:c.*600C>A	ENSP00000513686.1:n.*600C>A
ENST00000698369.1:n.1647C>A
ENST00000698370.1:n.304C>A
ENST00000221283.10:c.497C>A MANE Select	ENSP00000221283.4:p.Thr166Lys
ENST00000221283.9:c.497C>A	ENSP00000221283.4:p.Thr166Lys
ENST00000414284.6:c.488C>A	ENSP00000409471.1:p.Thr163Lys
ENST00000441779.6:c.530C>A	ENSP00000413606.2:p.Thr177Lys
ENST00000595866.1:c.596C>A
ENST00000595950.5:c.341C>A	ENSP00000471161.1:p.Thr114Lys
ENST00000597068.5:c.497C>A	ENSP00000471327.1:p.Thr166Lys
ENST00000598664.5:c.52-262C>A	ENSP00000472796.1:n.52-262C>A
ENST00000599648.1:n.331C>A
ENST00000599737.5:c.382-262C>A	ENSP00000471585.1:n.382-262C>A
ENST00000622853.4:c.497C>A	ENSP00000480468.1:p.Thr166Lys
NM_001127396.2:c.488C>A	NP_001120868.1:p.Thr163Lys
NM_001272034.1:c.530C>A	NP_001258963.1:p.Thr177Lys
NM_006949.3:c.497C>A	NP_008880.2:p.Thr166Lys
NR_073560.1:n.546C>A
XM_011528210.1:c.497C>A	XP_011526512.1:p.Thr166Lys
XM_011528211.1:c.497C>A	XP_011526513.1:p.Thr166Lys
XM_011528212.1:c.497C>A	XP_011526514.1:p.Thr166Lys
XM_011528213.1:c.497C>A	XP_011526515.1:p.Thr166Lys
XM_011528210.2:c.497C>A	XP_011526512.1:p.Thr166Lys
XM_011528212.3:c.497C>A	XP_011526514.1:p.Thr166Lys
XR_001753741.2:n.535C>A
NM_006949.4:c.497C>A MANE Select	NP_008880.2:p.Thr166Lys
NM_001127396.3:c.488C>A	NP_001120868.1:p.Thr163Lys
NM_001272034.2:c.530C>A	NP_001258963.1:p.Thr177Lys
NR_073560.2:n.537C>A