Canonical Allele Identifier: CA403162082

Gene: STXBP2

Linked Data

• ClinVar Variation Id: 969042
• ClinVar RCV Id: RCV001244298
• dbSNP Id: rs61736587
• gnomAD v2: 19-7712322-G-T
• gnomAD v3: 19-7647436-G-T
• gnomAD v4: 19-7647436-G-T
• MyVariant Identifiers: chr19:g.7712322G>T (hg19) ; chr19:g.7647436G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7647436G>T , CM000681.2:g.7647436G>T	GRCh38
NC_000019.9:g.7712322G>T , CM000681.1:g.7712322G>T	GRCh37
NC_000019.8:g.7618322G>T	NCBI36
NG_016709.1:g.15332G>T , LRG_165:g.15332G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000595866.2:c.*1575G>T	ENSP00000469553.2:n.*1575G>T
ENST00000600702.6:c.1538+189G>T	ENSP00000471737.2:n.1538+189G>T
ENST00000698368.1:c.*1724G>T	ENSP00000513686.1:n.*1724G>T
ENST00000698369.1:n.2771G>T
ENST00000221283.10:c.1621G>T MANE Select	ENSP00000221283.4:p.Gly541Cys
ENST00000221283.9:c.1621G>T	ENSP00000221283.4:p.Gly541Cys
ENST00000414284.6:c.1612G>T	ENSP00000409471.1:p.Gly538Cys
ENST00000441779.6:c.1654G>T	ENSP00000413606.2:p.Gly552Cys
ENST00000595800.1:n.1538G>T
ENST00000597068.5:c.*369G>T	ENSP00000471327.1:n.*369G>T
ENST00000599278.1:n.276G>T
ENST00000599400.1:c.622G>T
ENST00000599737.5:c.1328G>T	ENSP00000471585.1:n.1328G>T
ENST00000600702.5:c.621+189G>T
ENST00000601061.1:n.482G>T
ENST00000602355.1:c.226G>T	ENSP00000473406.1:p.Gly76Cys
ENST00000622853.4:c.1621G>T	ENSP00000480468.1:p.Gly541Cys
NM_001127396.2:c.1612G>T	NP_001120868.1:p.Gly538Cys
NM_001272034.1:c.1654G>T	NP_001258963.1:p.Gly552Cys
NM_006949.3:c.1621G>T	NP_008880.2:p.Gly541Cys
NR_073560.1:n.1645G>T
NM_006949.4:c.1621G>T MANE Select	NP_008880.2:p.Gly541Cys
NM_001127396.3:c.1612G>T	NP_001120868.1:p.Gly538Cys
NM_001272034.2:c.1654G>T	NP_001258963.1:p.Gly552Cys
NR_073560.2:n.1636G>T