Canonical Allele Identifier: CA13444606
Gene: P2RY2 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.73241355A>C
GRCh37 chr11:g.72952400A>C
gnomAD v2:
11:72952400 A / C
gnomAD v3:
11:73241355 A / C
gnomAD v4:
chr11-73241355-A-C
Joint Max Group AF 0.66194965 (EAS)
Genomes Max Group AF 0.66227601 (EAS)
Exomes Max Group AF 0.22534097 (NFE)
dbSNP:
4382936
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.73241355A>C , CM000673.2:g.73241355A>C GRCh38
NC_000011.9:g.72952400A>C , CM000673.1:g.72952400A>C GRCh37
NC_000011.8:g.72630048A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000393597.7:c.*6062A>C MANE Select ENSP00000377222.2:n.*6062A>C
NM_002564.3:c.*6062A>C NP_002555.3:n.*6062A>C
NM_176071.2:c.*6062A>C NP_788085.2:n.*6062A>C
NM_176072.2:c.*6062A>C NP_788086.2:n.*6062A>C
XR_001747890.1:n.1934-1944A>C
XR_001747891.1:n.1934-1944A>C
XR_001747892.1:n.2250A>C
NM_002564.4:c.*6062A>C MANE Select NP_002555.4:n.*6062A>C
NM_176071.3:c.*6062A>C NP_788085.3:n.*6062A>C
NM_176072.3:c.*6062A>C NP_788086.3:n.*6062A>C
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