Canonical Allele Identifier: CA403162168

Gene: STXBP2

Linked Data

• MyVariant Identifiers: chr19:g.7712361A>C (hg19) ; chr19:g.7647475A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7647475A>C , CM000681.2:g.7647475A>C	GRCh38
NC_000019.9:g.7712361A>C , CM000681.1:g.7712361A>C	GRCh37
NC_000019.8:g.7618361A>C	NCBI36
NG_016709.1:g.15371A>C , LRG_165:g.15371A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000595866.2:c.*1614A>C	ENSP00000469553.2:n.*1614A>C
ENST00000600702.6:c.1538+228A>C	ENSP00000471737.2:n.1538+228A>C
ENST00000698368.1:c.*1763A>C	ENSP00000513686.1:n.*1763A>C
ENST00000698369.1:n.2810A>C
ENST00000221283.10:c.1660A>C MANE Select	ENSP00000221283.4:p.Thr554Pro
ENST00000221283.9:c.1660A>C	ENSP00000221283.4:p.Thr554Pro
ENST00000414284.6:c.1651A>C	ENSP00000409471.1:p.Thr551Pro
ENST00000441779.6:c.1693A>C	ENSP00000413606.2:p.Thr565Pro
ENST00000595800.1:n.1577A>C
ENST00000597068.5:c.*408A>C	ENSP00000471327.1:n.*408A>C
ENST00000599400.1:c.661A>C
ENST00000599737.5:c.1367A>C	ENSP00000471585.1:n.1367A>C
ENST00000600702.5:c.621+228A>C
ENST00000601061.1:n.521A>C
ENST00000602355.1:c.265A>C	ENSP00000473406.1:p.Thr89Pro
ENST00000622853.4:c.1660A>C	ENSP00000480468.1:p.Thr554Pro
NM_001127396.2:c.1651A>C	NP_001120868.1:p.Thr551Pro
NM_001272034.1:c.1693A>C	NP_001258963.1:p.Thr565Pro
NM_006949.3:c.1660A>C	NP_008880.2:p.Thr554Pro
NR_073560.1:n.1684A>C
NM_006949.4:c.1660A>C MANE Select	NP_008880.2:p.Thr554Pro
NM_001127396.3:c.1651A>C	NP_001120868.1:p.Thr551Pro
NM_001272034.2:c.1693A>C	NP_001258963.1:p.Thr565Pro
NR_073560.2:n.1675A>C