Canonical Allele Identifier: CA357632867
Gene: PKD2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88038389A>T , CM000666.2:g.88038389A>T GRCh38
NC_000004.11:g.88959541A>T , CM000666.1:g.88959541A>T GRCh37
NC_000004.10:g.89178565A>T NCBI36
NG_008604.1:g.35722A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000237596.7:c.982A>T MANE Select ENSP00000237596.2:p.Asn328Tyr
ENST00000237596.6:c.982A>T ENSP00000237596.2:p.Asn328Tyr
ENST00000506367.1:n.429A>T
NM_000297.3:c.982A>T NP_000288.1:p.Asn328Tyr
XM_011532028.1:c.982A>T XP_011530330.1:p.Asn328Tyr
XM_011532029.1:c.262A>T XP_011530331.1:p.Asn88Tyr
XM_011532030.1:c.142A>T XP_011530332.1:p.Asn48Tyr
XR_244632.2:n.1077A>T
NR_156488.1:n.1069A>T
XM_011532028.2:c.982A>T XP_011530330.1:p.Asn328Tyr
XM_011532030.2:c.142A>T XP_011530332.1:p.Asn48Tyr
NM_000297.4:c.982A>T MANE Select NP_000288.1:p.Asn328Tyr
NR_156488.2:n.1081A>T