Canonical Allele Identifier: CA403162205

Gene: STXBP2

Linked Data

• MyVariant Identifiers: chr19:g.7712379A>T (hg19) ; chr19:g.7647493A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7647493A>T , CM000681.2:g.7647493A>T	GRCh38
NC_000019.9:g.7712379A>T , CM000681.1:g.7712379A>T	GRCh37
NC_000019.8:g.7618379A>T	NCBI36
NG_016709.1:g.15389A>T , LRG_165:g.15389A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000600702.6:c.1539-232A>T	ENSP00000471737.2:n.1539-232A>T
ENST00000221283.10:c.1678A>T MANE Select	ENSP00000221283.4:p.Lys560Ter
ENST00000221283.9:c.1678A>T	ENSP00000221283.4:p.Lys560Ter
ENST00000414284.6:c.1669A>T	ENSP00000409471.1:p.Lys557Ter
ENST00000441779.6:c.1711A>T	ENSP00000413606.2:p.Lys571Ter
ENST00000595800.1:n.1595A>T
ENST00000597068.5:c.*426A>T	ENSP00000471327.1:n.*426A>T
ENST00000599400.1:c.679A>T
ENST00000599737.5:c.1385A>T	ENSP00000471585.1:n.1385A>T
ENST00000600702.5:c.622-232A>T
ENST00000601061.1:n.539A>T
ENST00000602355.1:c.283A>T	ENSP00000473406.1:p.Lys95Ter
ENST00000622853.4:c.1678-1A>T	ENSP00000480468.1:n.1678-1A>T
NM_001127396.2:c.1669A>T	NP_001120868.1:p.Lys557Ter
NM_001272034.1:c.1711A>T	NP_001258963.1:p.Lys571Ter
NM_006949.3:c.1678A>T	NP_008880.2:p.Lys560Ter
NR_073560.1:n.1702A>T
NM_006949.4:c.1678A>T MANE Select	NP_008880.2:p.Lys560Ter
NM_001127396.3:c.1669A>T	NP_001120868.1:p.Lys557Ter
NM_001272034.2:c.1711A>T	NP_001258963.1:p.Lys571Ter
NR_073560.2:n.1693A>T