Canonical Allele Identifier: CA100872843
Gene: PKD2 HGNC NCBI

Linked Data

dbSNP Id: rs1005118570
gnomAD v2: 4-88928790-C-G
gnomAD v3: 4-88007638-C-G
gnomAD v4: 4-88007638-C-G
MyVariant Identifiers: chr4:g.88928790C>G (hg19) chr4:g.88007638C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007638C>G , CM000666.2:g.88007638C>G GRCh38
NC_000004.11:g.88928790C>G , CM000666.1:g.88928790C>G GRCh37
NC_000004.10:g.89147814C>G NCBI36
NG_008604.1:g.4971C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.-96C>G MANE Select ENSP00000237596.2:n.-96C>G
NM_000297.4:c.-96C>G MANE Select NP_000288.1:n.-96C>G
NR_156488.2:n.4C>G
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