Canonical Allele Identifier: CA799592388
Gene: PKD2 HGNC NCBI

Linked Data

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

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

Transcript Alleles

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