Canonical Allele Identifier: CA304008528
Gene: SBNO2 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.1114120C>T
GRCh37 chr19:g.1114119C>T
gnomAD v2:
19:1114119 C / T
gnomAD v3:
19:1114120 C / T
gnomAD v4:
chr19-1114120-C-T
Joint Max Group AF 0.2178723 (NFE)
Genomes Max Group AF 0.2165168 (NFE)
Exomes Max Group AF 0.21775819 (NFE)
dbSNP:
3746162
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1114120C>T , CM000681.2:g.1114120C>T GRCh38
NC_000019.9:g.1114119C>T , CM000681.1:g.1114119C>T GRCh37
NC_000019.8:g.1065119C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000361757.8:c.2077+111G>A MANE Select ENSP00000354733.2:n.2077+111G>A
ENST00000361757.7:c.2077+111G>A ENSP00000354733.2:n.2077+111G>A
ENST00000438103.6:c.1906+111G>A ENSP00000400762.1:n.1906+111G>A
ENST00000587024.5:c.2047+111G>A ENSP00000468520.1:n.2047+111G>A
NM_001100122.1:c.1906+111G>A NP_001093592.1:n.1906+111G>A
NM_014963.2:c.2077+111G>A NP_055778.2:n.2077+111G>A
XM_005259519.3:c.2077+111G>A XP_005259576.1:n.2077+111G>A
XM_005259520.2:c.2077+111G>A XP_005259577.1:n.2077+111G>A
XM_011527803.1:c.1855+111G>A XP_011526105.1:n.1855+111G>A
XM_011527804.1:c.2077+111G>A XP_011526106.1:n.2077+111G>A
XM_011527804.3:c.2077+111G>A XP_011526106.1:n.2077+111G>A
NM_014963.3:c.2077+111G>A MANE Select NP_055778.2:n.2077+111G>A
NM_001100122.2:c.1906+111G>A NP_001093592.1:n.1906+111G>A
Search 100 bp 5'
Search 100 bp 3'