Canonical Allele Identifier: CA403162184

Gene: STXBP2

Linked Data

• MyVariant Identifiers: chr19:g.7712368C>T (hg19) ; chr19:g.7647482C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7647482C>T , CM000681.2:g.7647482C>T	GRCh38
NC_000019.9:g.7712368C>T , CM000681.1:g.7712368C>T	GRCh37
NC_000019.8:g.7618368C>T	NCBI36
NG_016709.1:g.15378C>T , LRG_165:g.15378C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000600702.6:c.1538+235C>T	ENSP00000471737.2:n.1538+235C>T
ENST00000221283.10:c.1667C>T MANE Select	ENSP00000221283.4:p.Ala556Val
ENST00000221283.9:c.1667C>T	ENSP00000221283.4:p.Ala556Val
ENST00000414284.6:c.1658C>T	ENSP00000409471.1:p.Ala553Val
ENST00000441779.6:c.1700C>T	ENSP00000413606.2:p.Ala567Val
ENST00000595800.1:n.1584C>T
ENST00000597068.5:c.*415C>T	ENSP00000471327.1:n.*415C>T
ENST00000599400.1:c.668C>T
ENST00000599737.5:c.1374C>T	ENSP00000471585.1:n.1374C>T
ENST00000600702.5:c.621+235C>T
ENST00000601061.1:n.528C>T
ENST00000602355.1:c.272C>T	ENSP00000473406.1:p.Ala91Val
ENST00000622853.4:c.1667C>T	ENSP00000480468.1:p.Ala556Val
NM_001127396.2:c.1658C>T	NP_001120868.1:p.Ala553Val
NM_001272034.1:c.1700C>T	NP_001258963.1:p.Ala567Val
NM_006949.3:c.1667C>T	NP_008880.2:p.Ala556Val
NR_073560.1:n.1691C>T
NM_006949.4:c.1667C>T MANE Select	NP_008880.2:p.Ala556Val
NM_001127396.3:c.1658C>T	NP_001120868.1:p.Ala553Val
NM_001272034.2:c.1700C>T	NP_001258963.1:p.Ala567Val
NR_073560.2:n.1682C>T