Canonical Allele Identifier: CA304906940

Gene: STXBP2

Linked Data

• ClinVar Variation Id: 849795
• ClinVar RCV Id: RCV001053829
• dbSNP Id: rs949311854
• gnomAD v2: 19-7706661-G-C
• gnomAD v3: 19-7641775-G-C
• gnomAD v4: 19-7641775-G-C
• MyVariant Identifiers: chr19:g.7706661G>C (hg19) ; chr19:g.7641775G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7641775G>C , CM000681.2:g.7641775G>C	GRCh38
NC_000019.9:g.7706661G>C , CM000681.1:g.7706661G>C	GRCh37
NC_000019.8:g.7612661G>C	NCBI36
NG_016709.1:g.9671G>C , LRG_165:g.9671G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000595866.2:c.*454G>C	ENSP00000469553.2:n.*454G>C
ENST00000600702.6:c.500G>C	ENSP00000471737.2:p.Arg167Pro
ENST00000698367.1:n.548G>C
ENST00000698368.1:c.*603G>C	ENSP00000513686.1:n.*603G>C
ENST00000698369.1:n.1650G>C
ENST00000698370.1:n.307G>C
ENST00000221283.10:c.500G>C MANE Select	ENSP00000221283.4:p.Arg167Pro
ENST00000221283.9:c.500G>C	ENSP00000221283.4:p.Arg167Pro
ENST00000414284.6:c.491G>C	ENSP00000409471.1:p.Arg164Pro
ENST00000441779.6:c.533G>C	ENSP00000413606.2:p.Arg178Pro
ENST00000595866.1:c.599G>C
ENST00000595950.5:c.344G>C	ENSP00000471161.1:p.Arg115Pro
ENST00000597068.5:c.500G>C	ENSP00000471327.1:p.Arg167Pro
ENST00000598664.5:c.52-259G>C	ENSP00000472796.1:n.52-259G>C
ENST00000599648.1:n.334G>C
ENST00000599737.5:c.382-259G>C	ENSP00000471585.1:n.382-259G>C
ENST00000622853.4:c.500G>C	ENSP00000480468.1:p.Arg167Pro
NM_001127396.2:c.491G>C	NP_001120868.1:p.Arg164Pro
NM_001272034.1:c.533G>C	NP_001258963.1:p.Arg178Pro
NM_006949.3:c.500G>C	NP_008880.2:p.Arg167Pro
NR_073560.1:n.549G>C
XM_011528210.1:c.500G>C	XP_011526512.1:p.Arg167Pro
XM_011528211.1:c.500G>C	XP_011526513.1:p.Arg167Pro
XM_011528212.1:c.500G>C	XP_011526514.1:p.Arg167Pro
XM_011528213.1:c.500G>C	XP_011526515.1:p.Arg167Pro
XM_011528210.2:c.500G>C	XP_011526512.1:p.Arg167Pro
XM_011528212.3:c.500G>C	XP_011526514.1:p.Arg167Pro
XR_001753741.2:n.538G>C
NM_006949.4:c.500G>C MANE Select	NP_008880.2:p.Arg167Pro
NM_001127396.3:c.491G>C	NP_001120868.1:p.Arg164Pro
NM_001272034.2:c.533G>C	NP_001258963.1:p.Arg178Pro
NR_073560.2:n.540G>C