Canonical Allele Identifier: CA9377145
Gene: CD22 HGNC NCBI
MIR5196 HGNC NCBI
COSMIC:
COSM4985713 (not active)
MyVariant.info:
GRCh38 chr19:g.35345627G>A
GRCh37 chr19:g.35836530G>A
Revel Score:
ENST00000085219 (MANE Select) 0.013
ENST00000536635 0.013
ENST00000341773 0.013
ENST00000419549 0.013
gnomAD v2:
19:35836530 G / A
gnomAD v3:
19:35345627 G / A
gnomAD v4:
chr19-35345627-G-A
Joint Max Group AF 0.20214457 (EAS)
Genomes Max Group AF 0.22030766 (EAS)
Exomes Max Group AF 0.20195057 (NFE)
dbSNP:
10406069
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35345627G>A , CM000681.2:g.35345627G>A GRCh38
NC_000019.9:g.35836530G>A , CM000681.1:g.35836530G>A GRCh37
NC_000019.8:g.40528370G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000085219.10:c.2234G>A (CD22) MANE Select ENSP00000085219.4:p.Gly745Asp
ENST00000085219.9:c.2234G>A (CD22) ENSP00000085219.4:p.Gly745Asp
ENST00000270311.10:c.1703G>A (CD22) ENSP00000270311.7:p.Gly568Asp
ENST00000341773.10:c.1703G>A (CD22) ENSP00000339349.6:p.Gly568Asp
ENST00000419549.6:c.1718G>A (CD22) ENSP00000403822.2:p.Gly573Asp
ENST00000536635.6:c.1970G>A (CD22) ENSP00000442279.1:p.Gly657Asp
ENST00000544992.6:c.2208+501G>A (CD22) ENSP00000441237.1:n.2208+501G>A
ENST00000594250.5:c.1703G>A (CD22) ENSP00000469984.1:p.Gly568Asp
ENST00000601769.5:c.*1539G>A (CD22) ENSP00000470193.1:n.*1539G>A
NM_001185099.1:c.1970G>A (CD22) NP_001172028.1:p.Gly657Asp
NM_001185100.1:c.2208+501G>A (CD22) NP_001172029.1:n.2208+501G>A
NM_001185101.1:c.1703G>A (CD22) NP_001172030.1:p.Gly568Asp
NM_001278417.1:c.1718G>A (CD22) NP_001265346.1:p.Gly573Asp
NM_001771.3:c.2234G>A (CD22) NP_001762.2:p.Gly745Asp
NR_049828.1:n.115G>A (MIR5196)
NM_001771.4:c.2234G>A (CD22) MANE Select NP_001762.2:p.Gly745Asp
NM_001185099.2:c.1970G>A (CD22) NP_001172028.1:p.Gly657Asp
NM_001185100.2:c.2208+501G>A (CD22) NP_001172029.1:n.2208+501G>A
NM_001278417.2:c.1718G>A (CD22) NP_001265346.1:p.Gly573Asp
NM_001185101.2:c.1703G>A (CD22) NP_001172030.1:p.Gly568Asp
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