Allele Registry

Canonical Allele Identifier: CA11379935

Gene: COPB2-DT HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr3:g.139540945T>G

GRCh37 chr3:g.139259787T>G

Linked Data - Sequence & Population

gnomAD v2:

3:139259787 T / G

gnomAD v3:

3:139540945 T / G

gnomAD v4:

chr3-139540945-T-G

Joint Max Group AF 0.58181906 (NFE)

Genomes Max Group AF 0.58181906 (NFE)

Linked Data - NCBI & NCI

dbSNP:

176990

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.139540945T>G , CM000665.2:g.139540945T>G	GRCh38
NC_000003.11:g.139259787T>G , CM000665.1:g.139259787T>G	GRCh37
NC_000003.10:g.140742477T>G	NCBI36
NG_047073.1:g.3885A>C

Transcript Alleles

HGVS	Amino-acid Change
NR_121609.1:n.355-36847T>G

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