Canonical Allele Identifier: CA403161987

Gene: STXBP2

Linked Data

• MyVariant Identifiers: chr19:g.7712271G>T (hg19) ; chr19:g.7647385G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7647385G>T , CM000681.2:g.7647385G>T	GRCh38
NC_000019.9:g.7712271G>T , CM000681.1:g.7712271G>T	GRCh37
NC_000019.8:g.7618271G>T	NCBI36
NG_016709.1:g.15281G>T , LRG_165:g.15281G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000595866.2:c.*1524G>T	ENSP00000469553.2:n.*1524G>T
ENST00000600702.6:c.1538+138G>T	ENSP00000471737.2:n.1538+138G>T
ENST00000698368.1:c.*1673G>T	ENSP00000513686.1:n.*1673G>T
ENST00000698369.1:n.2720G>T
ENST00000221283.10:c.1570G>T MANE Select	ENSP00000221283.4:p.Ala524Ser
ENST00000221283.9:c.1570G>T	ENSP00000221283.4:p.Ala524Ser
ENST00000414284.6:c.1561G>T	ENSP00000409471.1:p.Ala521Ser
ENST00000441779.6:c.1603G>T	ENSP00000413606.2:p.Ala535Ser
ENST00000595800.1:n.1487G>T
ENST00000597068.5:c.*318G>T	ENSP00000471327.1:n.*318G>T
ENST00000599278.1:n.225G>T
ENST00000599400.1:c.571G>T
ENST00000599737.5:c.1277G>T	ENSP00000471585.1:n.1277G>T
ENST00000600702.5:c.621+138G>T
ENST00000601061.1:n.431G>T
ENST00000602355.1:c.175G>T	ENSP00000473406.1:p.Ala59Ser
ENST00000622853.4:c.1570G>T	ENSP00000480468.1:p.Ala524Ser
NM_001127396.2:c.1561G>T	NP_001120868.1:p.Ala521Ser
NM_001272034.1:c.1603G>T	NP_001258963.1:p.Ala535Ser
NM_006949.3:c.1570G>T	NP_008880.2:p.Ala524Ser
NR_073560.1:n.1594G>T
NM_006949.4:c.1570G>T MANE Select	NP_008880.2:p.Ala524Ser
NM_001127396.3:c.1561G>T	NP_001120868.1:p.Ala521Ser
NM_001272034.2:c.1603G>T	NP_001258963.1:p.Ala535Ser
NR_073560.2:n.1585G>T