Allele Registry

Canonical Allele Identifier: CA14956513

Gene: BCR HGNC NCBI

Linked Data - Expert Curation

COSMIC:

COSN17134364 (not active)

COSN17136202 (not active)

COSN17147437 (not active)

COSN17148344 (not active)

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr22:g.23203692A>G

GRCh37 chr22:g.23545879A>G

Linked Data - Sequence & Population

gnomAD v2:

22:23545879 A / G

gnomAD v3:

22:23203692 A / G

gnomAD v4:

chr22-23203692-A-G

Joint Max Group AF 0.23990481 (EAS)

Genomes Max Group AF 0.23990481 (EAS)

Linked Data - NCBI & NCI

dbSNP:

2267013

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23203692A>G , CM000684.2:g.23203692A>G	GRCh38
NC_000022.10:g.23545879A>G , CM000684.1:g.23545879A>G	GRCh37
NC_000022.9:g.21875879A>G	NCBI36
NG_009244.1:g.28328A>G
NG_009244.2:g.28328A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305877.13:c.1279+21453A>G MANE Select	ENSP00000303507.8:n.1279+21453A>G
ENST00000305877.12:c.1279+21453A>G	ENSP00000303507.8:n.1279+21453A>G
ENST00000359540.7:c.1279+21453A>G	ENSP00000352535.3:n.1279+21453A>G
ENST00000398512.9:c.1269+21463A>G	ENSP00000381524.6:n.1269+21463A>G
ENST00000463770.5:n.133+5307A>G
ENST00000479188.5:n.129+23860A>G
ENST00000487679.1:n.196+4340A>G
NM_004327.3:c.1279+21453A>G	NP_004318.3:n.1279+21453A>G
NM_021574.2:c.1279+21453A>G	NP_067585.2:n.1279+21453A>G
NM_004327.4:c.1279+21453A>G MANE Select	NP_004318.3:n.1279+21453A>G
NM_021574.3:c.1279+21453A>G	NP_067585.2:n.1279+21453A>G

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