Canonical Allele Identifier: CA403158359

Gene: STXBP2

Linked Data

• MyVariant Identifiers: chr19:g.7706664A>C (hg19) ; chr19:g.7641778A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7641778A>C , CM000681.2:g.7641778A>C	GRCh38
NC_000019.9:g.7706664A>C , CM000681.1:g.7706664A>C	GRCh37
NC_000019.8:g.7612664A>C	NCBI36
NG_016709.1:g.9674A>C , LRG_165:g.9674A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000595866.2:c.*457A>C	ENSP00000469553.2:n.*457A>C
ENST00000600702.6:c.503A>C	ENSP00000471737.2:p.Gln168Pro
ENST00000698367.1:n.551A>C
ENST00000698368.1:c.*606A>C	ENSP00000513686.1:n.*606A>C
ENST00000698369.1:n.1653A>C
ENST00000698370.1:n.310A>C
ENST00000221283.10:c.503A>C MANE Select	ENSP00000221283.4:p.Gln168Pro
ENST00000221283.9:c.503A>C	ENSP00000221283.4:p.Gln168Pro
ENST00000414284.6:c.494A>C	ENSP00000409471.1:p.Gln165Pro
ENST00000441779.6:c.536A>C	ENSP00000413606.2:p.Gln179Pro
ENST00000595866.1:c.602A>C
ENST00000595950.5:c.347A>C	ENSP00000471161.1:p.Gln116Pro
ENST00000597068.5:c.503A>C	ENSP00000471327.1:p.Gln168Pro
ENST00000598664.5:c.52-256A>C	ENSP00000472796.1:n.52-256A>C
ENST00000599648.1:n.337A>C
ENST00000599737.5:c.382-256A>C	ENSP00000471585.1:n.382-256A>C
ENST00000622853.4:c.503A>C	ENSP00000480468.1:p.Gln168Pro
NM_001127396.2:c.494A>C	NP_001120868.1:p.Gln165Pro
NM_001272034.1:c.536A>C	NP_001258963.1:p.Gln179Pro
NM_006949.3:c.503A>C	NP_008880.2:p.Gln168Pro
NR_073560.1:n.552A>C
XM_011528210.1:c.503A>C	XP_011526512.1:p.Gln168Pro
XM_011528211.1:c.503A>C	XP_011526513.1:p.Gln168Pro
XM_011528212.1:c.503A>C	XP_011526514.1:p.Gln168Pro
XM_011528213.1:c.503A>C	XP_011526515.1:p.Gln168Pro
XM_011528210.2:c.503A>C	XP_011526512.1:p.Gln168Pro
XM_011528212.3:c.503A>C	XP_011526514.1:p.Gln168Pro
XR_001753741.2:n.541A>C
NM_006949.4:c.503A>C MANE Select	NP_008880.2:p.Gln168Pro
NM_001127396.3:c.494A>C	NP_001120868.1:p.Gln165Pro
NM_001272034.2:c.536A>C	NP_001258963.1:p.Gln179Pro
NR_073560.2:n.543A>C