Canonical Allele Identifier: CA403162188

Gene: STXBP2

Linked Data

• MyVariant Identifiers: chr19:g.7712371C>A (hg19) ; chr19:g.7647485C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7647485C>A , CM000681.2:g.7647485C>A	GRCh38
NC_000019.9:g.7712371C>A , CM000681.1:g.7712371C>A	GRCh37
NC_000019.8:g.7618371C>A	NCBI36
NG_016709.1:g.15381C>A , LRG_165:g.15381C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000600702.6:c.1538+238C>A	ENSP00000471737.2:n.1538+238C>A
ENST00000221283.10:c.1670C>A MANE Select	ENSP00000221283.4:p.Thr557Asn
ENST00000221283.9:c.1670C>A	ENSP00000221283.4:p.Thr557Asn
ENST00000414284.6:c.1661C>A	ENSP00000409471.1:p.Thr554Asn
ENST00000441779.6:c.1703C>A	ENSP00000413606.2:p.Thr568Asn
ENST00000595800.1:n.1587C>A
ENST00000597068.5:c.*418C>A	ENSP00000471327.1:n.*418C>A
ENST00000599400.1:c.671C>A
ENST00000599737.5:c.1377C>A	ENSP00000471585.1:n.1377C>A
ENST00000600702.5:c.621+238C>A
ENST00000601061.1:n.531C>A
ENST00000602355.1:c.275C>A	ENSP00000473406.1:p.Thr92Asn
ENST00000622853.4:c.1670C>A	ENSP00000480468.1:p.Thr557Asn
NM_001127396.2:c.1661C>A	NP_001120868.1:p.Thr554Asn
NM_001272034.1:c.1703C>A	NP_001258963.1:p.Thr568Asn
NM_006949.3:c.1670C>A	NP_008880.2:p.Thr557Asn
NR_073560.1:n.1694C>A
NM_006949.4:c.1670C>A MANE Select	NP_008880.2:p.Thr557Asn
NM_001127396.3:c.1661C>A	NP_001120868.1:p.Thr554Asn
NM_001272034.2:c.1703C>A	NP_001258963.1:p.Thr568Asn
NR_073560.2:n.1685C>A