Canonical Allele Identifier: CA254263

Gene: STXBP2

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7642081T>C , CM000681.2:g.7642081T>C	GRCh38
NC_000019.9:g.7706967T>C , CM000681.1:g.7706967T>C	GRCh37
NC_000019.8:g.7612967T>C	NCBI36
NG_016709.1:g.9977T>C , LRG_165:g.9977T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000595866.2:c.*580T>C	ENSP00000469553.2:n.*580T>C
ENST00000600702.6:c.626T>C	ENSP00000471737.2:p.Leu209Pro
ENST00000698367.1:n.674T>C
ENST00000698368.1:c.*729T>C	ENSP00000513686.1:n.*729T>C
ENST00000698369.1:n.1776T>C
ENST00000698370.1:n.433T>C
ENST00000698371.1:c.122T>C	ENSP00000513688.1:p.Leu41Pro
ENST00000221283.10:c.626T>C MANE Select	ENSP00000221283.4:p.Leu209Pro
ENST00000221283.9:c.626T>C	ENSP00000221283.4:p.Leu209Pro
ENST00000414284.6:c.617T>C	ENSP00000409471.1:p.Leu206Pro
ENST00000441779.6:c.659T>C	ENSP00000413606.2:p.Leu220Pro
ENST00000594221.5:n.72T>C
ENST00000595866.1:c.725T>C
ENST00000595950.5:c.470T>C	ENSP00000471161.1:p.Leu157Pro
ENST00000597068.5:c.626T>C	ENSP00000471327.1:p.Leu209Pro
ENST00000598664.5:c.99T>C	ENSP00000472796.1:p.Ala33=
ENST00000599737.5:c.429T>C	ENSP00000471585.1:p.Ala143=
ENST00000622853.4:c.626T>C	ENSP00000480468.1:p.Leu209Pro
NM_001127396.2:c.617T>C	NP_001120868.1:p.Leu206Pro
NM_001272034.1:c.659T>C	NP_001258963.1:p.Leu220Pro
NM_006949.3:c.626T>C	NP_008880.2:p.Leu209Pro
NR_073560.1:n.675T>C
XM_011528210.1:c.626T>C	XP_011526512.1:p.Leu209Pro
XM_011528211.1:c.626T>C	XP_011526513.1:p.Leu209Pro
XM_011528212.1:c.626T>C	XP_011526514.1:p.Leu209Pro
XM_011528213.1:c.626T>C	XP_011526515.1:p.Leu209Pro
XM_011528210.2:c.626T>C	XP_011526512.1:p.Leu209Pro
XM_011528212.3:c.626T>C	XP_011526514.1:p.Leu209Pro
XR_001753741.2:n.664T>C
NM_006949.4:c.626T>C MANE Select	NP_008880.2:p.Leu209Pro
NM_001127396.3:c.617T>C	NP_001120868.1:p.Leu206Pro
NM_001272034.2:c.659T>C	NP_001258963.1:p.Leu220Pro
NR_073560.2:n.666T>C