Canonical Allele Identifier: CA357632651
Gene: PKD2 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.88038323C>G
GRCh37 chr4:g.88959475C>G
Revel Score:
ENST00000237596 (MANE Select) 0.110
gnomAD v2:
4:88959475 C / G
gnomAD v3:
4:88038323 C / G
gnomAD v4:
chr4-88038323-C-G
Joint Max Group AF 0.00000124 (NFE)
Exomes Max Group AF 8.4e-7 (NFE)
ClinVar Allele:
1319020
ClinVar RCV:
RCV001807659
RCV002506830
ClinVar Variation:
1328405
dbSNP:
200001068
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88038323C>G , CM000666.2:g.88038323C>G GRCh38
NC_000004.11:g.88959475C>G , CM000666.1:g.88959475C>G GRCh37
NC_000004.10:g.89178499C>G NCBI36
NG_008604.1:g.35656C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.916C>G MANE Select ENSP00000237596.2:p.Arg306Gly
ENST00000237596.6:c.916C>G ENSP00000237596.2:p.Arg306Gly
ENST00000506367.1:n.363C>G
ENST00000506727.1:n.502C>G
NM_000297.3:c.916C>G NP_000288.1:p.Arg306Gly
XM_011532028.1:c.916C>G XP_011530330.1:p.Arg306Gly
XM_011532029.1:c.196C>G XP_011530331.1:p.Arg66Gly
XM_011532030.1:c.76C>G XP_011530332.1:p.Arg26Gly
XR_244632.2:n.1011C>G
NR_156488.1:n.1003C>G
XM_011532028.2:c.916C>G XP_011530330.1:p.Arg306Gly
XM_011532030.2:c.76C>G XP_011530332.1:p.Arg26Gly
NM_000297.4:c.916C>G MANE Select NP_000288.1:p.Arg306Gly
NR_156488.2:n.1015C>G
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