Canonical Allele Identifier: CA10142571
Gene: BCR HGNC NCBI
COSMIC:
COSM3759076 (not active)
MyVariant.info:
GRCh38 chr22:g.23285182A>G
GRCh37 chr22:g.23627369A>G
Revel Score:
ENST00000305877 (MANE Select) 0.098
ENST00000359540 0.098
ENST00000334149 0.098
gnomAD v2:
22:23627369 A / G
gnomAD v3:
22:23285182 A / G
gnomAD v4:
chr22-23285182-A-G
Joint Max Group AF 0.93208647 (AFR)
Genomes Max Group AF 0.9282512 (AFR)
Exomes Max Group AF 0.93148703 (AFR)
ClinVar RCV:
RCV001540040
ClinVar Variation:
1182413
dbSNP:
140504
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.23285182A>G , CM000684.2:g.23285182A>G GRCh38
NC_000022.10:g.23627369A>G , CM000684.1:g.23627369A>G GRCh37
NC_000022.9:g.21957369A>G NCBI36
NG_009244.1:g.109818A>G
NG_009244.2:g.109818A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000305877.13:c.2387A>G MANE Select ENSP00000303507.8:p.Asn796Ser
ENST00000305877.12:c.2387A>G ENSP00000303507.8:p.Asn796Ser
ENST00000359540.7:c.2387A>G ENSP00000352535.3:p.Asn796Ser
ENST00000398512.9:c.1270-2962A>G ENSP00000381524.6:n.1270-2962A>G
ENST00000466076.1:n.461A>G
ENST00000487968.5:n.1040A>G
NM_004327.3:c.2387A>G NP_004318.3:p.Asn796Ser
NM_021574.2:c.2387A>G NP_067585.2:p.Asn796Ser
NM_004327.4:c.2387A>G MANE Select NP_004318.3:p.Asn796Ser
NM_021574.3:c.2387A>G NP_067585.2:p.Asn796Ser
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