Canonical Allele Identifier: CA799592386
Gene: PKD2 HGNC NCBI

Linked Data

dbSNP Id: rs1328585659
gnomAD v4: 4-88007644-C-G
MyVariant Identifiers: chr4:g.88928796C>G (hg19) chr4:g.88007644C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007644C>G , CM000666.2:g.88007644C>G GRCh38
NC_000004.11:g.88928796C>G , CM000666.1:g.88928796C>G GRCh37
NC_000004.10:g.89147820C>G NCBI36
NG_008604.1:g.4977C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.-90C>G MANE Select ENSP00000237596.2:n.-90C>G
XR_244632.2:n.6C>G
NM_000297.4:c.-90C>G MANE Select NP_000288.1:n.-90C>G
NR_156488.2:n.10C>G
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