Canonical Allele Identifier: CA2587975062

Gene: STXBP2

Linked Data

• gnomAD v4: 19-7641678-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7641678T>C , CM000681.2:g.7641678T>C	GRCh38
NC_000019.9:g.7706564T>C , CM000681.1:g.7706564T>C	GRCh37
NC_000019.8:g.7612564T>C	NCBI36
NG_016709.1:g.9574T>C , LRG_165:g.9574T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000595866.2:c.*384-27T>C	ENSP00000469553.2:n.*384-27T>C
ENST00000600702.6:c.430-27T>C	ENSP00000471737.2:n.430-27T>C
ENST00000698367.1:n.478-27T>C
ENST00000698368.1:c.*533-27T>C	ENSP00000513686.1:n.*533-27T>C
ENST00000698369.1:n.1580-27T>C
ENST00000698370.1:n.237-27T>C
ENST00000221283.10:c.430-27T>C MANE Select	ENSP00000221283.4:n.430-27T>C
ENST00000221283.9:c.430-27T>C	ENSP00000221283.4:n.430-27T>C
ENST00000414284.6:c.421-27T>C	ENSP00000409471.1:n.421-27T>C
ENST00000441779.6:c.463-27T>C	ENSP00000413606.2:n.463-27T>C
ENST00000595866.1:c.529-27T>C
ENST00000595950.5:c.274-27T>C	ENSP00000471161.1:n.274-27T>C
ENST00000597068.5:c.430-27T>C	ENSP00000471327.1:n.430-27T>C
ENST00000598664.5:c.52-356T>C	ENSP00000472796.1:n.52-356T>C
ENST00000599648.1:n.264-27T>C
ENST00000599737.5:c.382-356T>C	ENSP00000471585.1:n.382-356T>C
ENST00000622853.4:c.430-27T>C	ENSP00000480468.1:n.430-27T>C
NM_001127396.2:c.421-27T>C	NP_001120868.1:n.421-27T>C
NM_001272034.1:c.463-27T>C	NP_001258963.1:n.463-27T>C
NM_006949.3:c.430-27T>C	NP_008880.2:n.430-27T>C
NR_073560.1:n.479-27T>C
XM_011528210.1:c.430-27T>C	XP_011526512.1:n.430-27T>C
XM_011528211.1:c.430-27T>C	XP_011526513.1:n.430-27T>C
XM_011528212.1:c.430-27T>C	XP_011526514.1:n.430-27T>C
XM_011528213.1:c.430-27T>C	XP_011526515.1:n.430-27T>C
XM_011528210.2:c.430-27T>C	XP_011526512.1:n.430-27T>C
XM_011528212.3:c.430-27T>C	XP_011526514.1:n.430-27T>C
XR_001753741.2:n.468-27T>C
NM_006949.4:c.430-27T>C MANE Select	NP_008880.2:n.430-27T>C
NM_001127396.3:c.421-27T>C	NP_001120868.1:n.421-27T>C
NM_001272034.2:c.463-27T>C	NP_001258963.1:n.463-27T>C
NR_073560.2:n.470-27T>C