Canonical Allele Identifier: CA2672346
Gene: P2RY1 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.152836120A>G
GRCh37 chr3:g.152553909A>G
Revel Score:
ENST00000305097 (MANE Select) 0.306
gnomAD v2:
3:152553909 A / G
gnomAD v3:
3:152836120 A / G
gnomAD v4:
chr3-152836120-A-G
Joint Max Group AF 0.00024625 (SAS)
Genomes Max Group AF 0.00013494 (NFE)
Exomes Max Group AF 0.00025981 (SAS)
ClinVar RCV:
RCV004214806
ClinVar Variation:
2372874
dbSNP:
200305170
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.152836120A>G , CM000665.2:g.152836120A>G GRCh38
NC_000003.11:g.152553909A>G , CM000665.1:g.152553909A>G GRCh37
NC_000003.10:g.154036599A>G NCBI36
NG_032896.2:g.6174A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000305097.6:c.338A>G MANE Select ENSP00000304767.3:p.Asn113Ser
ENST00000305097.5:c.338A>G ENSP00000304767.3:p.Asn113Ser
NM_002563.3:c.338A>G NP_002554.1:p.Asn113Ser
NM_002563.4:c.338A>G NP_002554.1:p.Asn113Ser
NM_002563.5:c.338A>G MANE Select NP_002554.1:p.Asn113Ser
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