Canonical Allele Identifier: CA403162064

Gene: STXBP2

Linked Data

• MyVariant Identifiers: chr19:g.7712313G>T (hg19) ; chr19:g.7647427G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7647427G>T , CM000681.2:g.7647427G>T	GRCh38
NC_000019.9:g.7712313G>T , CM000681.1:g.7712313G>T	GRCh37
NC_000019.8:g.7618313G>T	NCBI36
NG_016709.1:g.15323G>T , LRG_165:g.15323G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000595866.2:c.*1566G>T	ENSP00000469553.2:n.*1566G>T
ENST00000600702.6:c.1538+180G>T	ENSP00000471737.2:n.1538+180G>T
ENST00000698368.1:c.*1715G>T	ENSP00000513686.1:n.*1715G>T
ENST00000698369.1:n.2762G>T
ENST00000221283.10:c.1612G>T MANE Select	ENSP00000221283.4:p.Val538Phe
ENST00000221283.9:c.1612G>T	ENSP00000221283.4:p.Val538Phe
ENST00000414284.6:c.1603G>T	ENSP00000409471.1:p.Val535Phe
ENST00000441779.6:c.1645G>T	ENSP00000413606.2:p.Val549Phe
ENST00000595800.1:n.1529G>T
ENST00000597068.5:c.*360G>T	ENSP00000471327.1:n.*360G>T
ENST00000599278.1:n.267G>T
ENST00000599400.1:c.613G>T
ENST00000599737.5:c.1319G>T	ENSP00000471585.1:n.1319G>T
ENST00000600702.5:c.621+180G>T
ENST00000601061.1:n.473G>T
ENST00000602355.1:c.217G>T	ENSP00000473406.1:p.Val73Phe
ENST00000622853.4:c.1612G>T	ENSP00000480468.1:p.Val538Phe
NM_001127396.2:c.1603G>T	NP_001120868.1:p.Val535Phe
NM_001272034.1:c.1645G>T	NP_001258963.1:p.Val549Phe
NM_006949.3:c.1612G>T	NP_008880.2:p.Val538Phe
NR_073560.1:n.1636G>T
NM_006949.4:c.1612G>T MANE Select	NP_008880.2:p.Val538Phe
NM_001127396.3:c.1603G>T	NP_001120868.1:p.Val535Phe
NM_001272034.2:c.1645G>T	NP_001258963.1:p.Val549Phe
NR_073560.2:n.1627G>T