Canonical Allele Identifier: CA357625032
Gene: PKD2 HGNC NCBI

Linked Data

dbSNP Id: rs1351341206
gnomAD v4: 4-88007807-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007807A>G , CM000666.2:g.88007807A>G GRCh38
NC_000004.11:g.88928959A>G , CM000666.1:g.88928959A>G GRCh37
NC_000004.10:g.89147983A>G NCBI36
NG_008604.1:g.5140A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.74A>G MANE Select ENSP00000237596.2:p.Asp25Gly
ENST00000237596.6:c.74A>G ENSP00000237596.2:p.Asp25Gly
NM_000297.3:c.74A>G NP_000288.1:p.Asp25Gly
XM_011532028.1:c.74A>G XP_011530330.1:p.Asp25Gly
XR_244632.2:n.169A>G
NR_156488.1:n.161A>G
XM_011532028.2:c.74A>G XP_011530330.1:p.Asp25Gly
NM_000297.4:c.74A>G MANE Select NP_000288.1:p.Asp25Gly
NR_156488.2:n.173A>G