Canonical Allele Identifier: CA1474562046
Gene: PKD2 HGNC NCBI

Linked Data

dbSNP Id: rs1726213519
gnomAD v4: 4-88007664-A-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007664A>G , CM000666.2:g.88007664A>G GRCh38
NC_000004.11:g.88928816A>G , CM000666.1:g.88928816A>G GRCh37
NC_000004.10:g.89147840A>G NCBI36
NG_008604.1:g.4997A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.-70A>G MANE Select ENSP00000237596.2:n.-70A>G
NM_000297.3:c.-70A>G NP_000288.1:n.-70A>G
XM_011532028.1:c.-70A>G XP_011530330.1:n.-70A>G
XR_244632.2:n.26A>G
NR_156488.1:n.18A>G
XM_011532028.2:c.-70A>G XP_011530330.1:n.-70A>G
NM_000297.4:c.-70A>G MANE Select NP_000288.1:n.-70A>G
NR_156488.2:n.30A>G
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