Canonical Allele Identifier: CA3003703
Gene: PKD2 HGNC NCBI

Linked Data

dbSNP Id: rs749874370
ExAC: 4:88928847 C / T
gnomAD v2: 4-88928847-C-T
gnomAD v4: 4-88007695-C-T
MyVariant Identifiers: chr4:g.88928847C>T (hg19) chr4:g.88007695C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007695C>T , CM000666.2:g.88007695C>T GRCh38
NC_000004.11:g.88928847C>T , CM000666.1:g.88928847C>T GRCh37
NC_000004.10:g.89147871C>T NCBI36
NG_008604.1:g.5028C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.-39C>T MANE Select ENSP00000237596.2:n.-39C>T
ENST00000237596.6:c.-39C>T ENSP00000237596.2:n.-39C>T
NM_000297.3:c.-39C>T NP_000288.1:n.-39C>T
XM_011532028.1:c.-39C>T XP_011530330.1:n.-39C>T
XR_244632.2:n.57C>T
NR_156488.1:n.49C>T
XM_011532028.2:c.-39C>T XP_011530330.1:n.-39C>T
NM_000297.4:c.-39C>T MANE Select NP_000288.1:n.-39C>T
NR_156488.2:n.61C>T
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