Canonical Allele Identifier: CA357633267
Gene: PKD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 636770
ClinVar RCV Id: RCV000788690 RCV001000981 RCV001292537 RCV001869209
dbSNP Id: rs1578130676
gnomAD v3: 4-88038488-C-T
gnomAD v4: 4-88038488-C-T
MyVariant Identifiers: chr4:g.88959640C>T (hg19) chr4:g.88038488C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88038488C>T , CM000666.2:g.88038488C>T GRCh38
NC_000004.11:g.88959640C>T , CM000666.1:g.88959640C>T GRCh37
NC_000004.10:g.89178664C>T NCBI36
NG_008604.1:g.35821C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.1081C>T MANE Select ENSP00000237596.2:p.Arg361Ter
ENST00000237596.6:c.1081C>T ENSP00000237596.2:p.Arg361Ter
ENST00000506367.1:n.528C>T
NM_000297.3:c.1081C>T NP_000288.1:p.Arg361Ter
XM_011532028.1:c.1081C>T XP_011530330.1:p.Arg361Ter
XM_011532029.1:c.361C>T XP_011530331.1:p.Arg121Ter
XM_011532030.1:c.241C>T XP_011530332.1:p.Arg81Ter
XR_244632.2:n.1176C>T
NR_156488.1:n.1168C>T
XM_011532028.2:c.1081C>T XP_011530330.1:p.Arg361Ter
XM_011532030.2:c.241C>T XP_011530332.1:p.Arg81Ter
NM_000297.4:c.1081C>T MANE Select NP_000288.1:p.Arg361Ter
NR_156488.2:n.1180C>T
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