Canonical Allele Identifier: CA357619386
Gene: PKD2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88046779A>C , CM000666.2:g.88046779A>C GRCh38
NC_000004.11:g.88967931A>C , CM000666.1:g.88967931A>C GRCh37
NC_000004.10:g.89186955A>C NCBI36
NG_008604.1:g.44112A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.1457A>C MANE Select ENSP00000237596.2:p.Tyr486Ser
ENST00000237596.6:c.1457A>C ENSP00000237596.2:p.Tyr486Ser
ENST00000508588.5:c.-199+3322A>C ENSP00000427131.1:n.-199+3322A>C
NM_000297.3:c.1457A>C NP_000288.1:p.Tyr486Ser
XM_011532028.1:c.1232A>C XP_011530330.1:p.Tyr411Ser
XM_011532029.1:c.737A>C XP_011530331.1:p.Tyr246Ser
XM_011532030.1:c.617A>C XP_011530332.1:p.Tyr206Ser
XR_244632.2:n.1552A>C
NR_156488.1:n.1544A>C
XM_011532028.2:c.1232A>C XP_011530330.1:p.Tyr411Ser
XM_011532030.2:c.617A>C XP_011530332.1:p.Tyr206Ser
NM_000297.4:c.1457A>C MANE Select NP_000288.1:p.Tyr486Ser
NR_156488.2:n.1556A>C