Canonical Allele Identifier: CA403162107

Gene: STXBP2

Linked Data

• MyVariant Identifiers: chr19:g.7712334T>A (hg19) ; chr19:g.7647448T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7647448T>A , CM000681.2:g.7647448T>A	GRCh38
NC_000019.9:g.7712334T>A , CM000681.1:g.7712334T>A	GRCh37
NC_000019.8:g.7618334T>A	NCBI36
NG_016709.1:g.15344T>A , LRG_165:g.15344T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000595866.2:c.*1587T>A	ENSP00000469553.2:n.*1587T>A
ENST00000600702.6:c.1538+201T>A	ENSP00000471737.2:n.1538+201T>A
ENST00000698368.1:c.*1736T>A	ENSP00000513686.1:n.*1736T>A
ENST00000698369.1:n.2783T>A
ENST00000221283.10:c.1633T>A MANE Select	ENSP00000221283.4:p.Ser545Thr
ENST00000221283.9:c.1633T>A	ENSP00000221283.4:p.Ser545Thr
ENST00000414284.6:c.1624T>A	ENSP00000409471.1:p.Ser542Thr
ENST00000441779.6:c.1666T>A	ENSP00000413606.2:p.Ser556Thr
ENST00000595800.1:n.1550T>A
ENST00000597068.5:c.*381T>A	ENSP00000471327.1:n.*381T>A
ENST00000599278.1:n.288T>A
ENST00000599400.1:c.634T>A
ENST00000599737.5:c.1340T>A	ENSP00000471585.1:n.1340T>A
ENST00000600702.5:c.621+201T>A
ENST00000601061.1:n.494T>A
ENST00000602355.1:c.238T>A	ENSP00000473406.1:p.Ser80Thr
ENST00000622853.4:c.1633T>A	ENSP00000480468.1:p.Ser545Thr
NM_001127396.2:c.1624T>A	NP_001120868.1:p.Ser542Thr
NM_001272034.1:c.1666T>A	NP_001258963.1:p.Ser556Thr
NM_006949.3:c.1633T>A	NP_008880.2:p.Ser545Thr
NR_073560.1:n.1657T>A
NM_006949.4:c.1633T>A MANE Select	NP_008880.2:p.Ser545Thr
NM_001127396.3:c.1624T>A	NP_001120868.1:p.Ser542Thr
NM_001272034.2:c.1666T>A	NP_001258963.1:p.Ser556Thr
NR_073560.2:n.1648T>A