Canonical Allele Identifier: CA14436380
Gene: COPZ2 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.48045642G>A
GRCh37 chr17:g.46123004G>A
gnomAD v2:
17:46123004 G / A
gnomAD v3:
17:48045642 G / A
gnomAD v4:
chr17-48045642-G-A
Joint Max Group AF 0.23692336 (NFE)
Genomes Max Group AF 0.23690082 (NFE)
Exomes Max Group AF 0.17466052 (NFE)
dbSNP:
72823592
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.48045642G>A , CM000679.2:g.48045642G>A GRCh38
NC_000017.10:g.46123004G>A , CM000679.1:g.46123004G>A GRCh37
NC_000017.9:g.43478003G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_934474.1:n.883+1567C>T
XR_002958017.1:n.878+1567C>T
XR_934474.2:n.878+1567C>T
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