Canonical Allele Identifier: CA9144081
Gene: STXBP2 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.7645196G>C
GRCh37 chr19:g.7710082G>C
gnomAD v2:
19:7710082 G / C
gnomAD v3:
19:7645196 G / C
gnomAD v4:
chr19-7645196-G-C
Joint Max Group AF 0.00033549 (NFE)
Genomes Max Group AF 0.0003041 (NFE)
Exomes Max Group AF 0.00033134 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7645196G>C , CM000681.2:g.7645196G>C GRCh38
NC_000019.9:g.7710082G>C , CM000681.1:g.7710082G>C GRCh37
NC_000019.8:g.7616082G>C NCBI36
NG_016709.1:g.13092G>C , LRG_165:g.13092G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000595866.2:c.*1201-1G>C ENSP00000469553.2:n.*1201-1G>C
ENST00000600702.6:c.1247-1G>C ENSP00000471737.2:n.1247-1G>C
ENST00000698368.1:c.*1350-1G>C ENSP00000513686.1:n.*1350-1G>C
ENST00000698369.1:n.2397-1G>C
ENST00000698370.1:n.1054-1G>C
ENST00000698371.1:c.775-1G>C ENSP00000513688.1:n.775-1G>C
ENST00000221283.10:c.1247-1G>C MANE Select ENSP00000221283.4:n.1247-1G>C
ENST00000221283.9:c.1247-1G>C ENSP00000221283.4:n.1247-1G>C
ENST00000414284.6:c.1238-1G>C ENSP00000409471.1:n.1238-1G>C
ENST00000441779.6:c.1280-1G>C ENSP00000413606.2:n.1280-1G>C
ENST00000593854.5:n.405-1G>C
ENST00000595800.1:n.241-1G>C
ENST00000597068.5:c.1222-1G>C ENSP00000471327.1:n.1222-1G>C
ENST00000599400.1:c.171-1G>C
ENST00000599558.1:n.188-1G>C
ENST00000599737.5:c.1050-1G>C ENSP00000471585.1:n.1050-1G>C
ENST00000600702.5:c.330-1G>C
ENST00000601061.1:n.1G>C
ENST00000622853.4:c.1247-1G>C ENSP00000480468.1:n.1247-1G>C
NM_001127396.2:c.1238-1G>C NP_001120868.1:n.1238-1G>C
NM_001272034.1:c.1280-1G>C NP_001258963.1:n.1280-1G>C
NM_006949.3:c.1247-1G>C NP_008880.2:n.1247-1G>C
NR_073560.1:n.1271-1G>C
XM_011528210.1:c.1247-1G>C XP_011526512.1:n.1247-1G>C
XM_011528211.1:c.1166-1G>C XP_011526513.1:n.1166-1G>C
XM_011528210.2:c.1247-1G>C XP_011526512.1:n.1247-1G>C
XR_001753741.2:n.1317-1G>C
NM_006949.4:c.1247-1G>C MANE Select NP_008880.2:n.1247-1G>C
NM_001127396.3:c.1238-1G>C NP_001120868.1:n.1238-1G>C
NM_001272034.2:c.1280-1G>C NP_001258963.1:n.1280-1G>C
NR_073560.2:n.1262-1G>C
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