Canonical Allele Identifier: CA357624959
Gene: PKD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2002846
ClinVar RCV Id: RCV002824897
gnomAD v4: 4-88007789-C-T
MyVariant Identifiers: chr4:g.88928941C>T (hg19) chr4:g.88007789C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007789C>T , CM000666.2:g.88007789C>T GRCh38
NC_000004.11:g.88928941C>T , CM000666.1:g.88928941C>T GRCh37
NC_000004.10:g.89147965C>T NCBI36
NG_008604.1:g.5122C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.56C>T MANE Select ENSP00000237596.2:p.Pro19Leu
ENST00000237596.6:c.56C>T ENSP00000237596.2:p.Pro19Leu
NM_000297.3:c.56C>T NP_000288.1:p.Pro19Leu
XM_011532028.1:c.56C>T XP_011530330.1:p.Pro19Leu
XR_244632.2:n.151C>T
NR_156488.1:n.143C>T
XM_011532028.2:c.56C>T XP_011530330.1:p.Pro19Leu
NM_000297.4:c.56C>T MANE Select NP_000288.1:p.Pro19Leu
NR_156488.2:n.155C>T
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