Canonical Allele Identifier: CA357619570
Gene: PKD2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88046806T>A , CM000666.2:g.88046806T>A GRCh38
NC_000004.11:g.88967958T>A , CM000666.1:g.88967958T>A GRCh37
NC_000004.10:g.89186982T>A NCBI36
NG_008604.1:g.44139T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.1484T>A MANE Select ENSP00000237596.2:p.Ile495Asn
ENST00000237596.6:c.1484T>A ENSP00000237596.2:p.Ile495Asn
ENST00000508588.5:c.-199+3349T>A ENSP00000427131.1:n.-199+3349T>A
NM_000297.3:c.1484T>A NP_000288.1:p.Ile495Asn
XM_011532028.1:c.1259T>A XP_011530330.1:p.Ile420Asn
XM_011532029.1:c.764T>A XP_011530331.1:p.Ile255Asn
XM_011532030.1:c.644T>A XP_011530332.1:p.Ile215Asn
XR_244632.2:n.1579T>A
NR_156488.1:n.1571T>A
XM_011532028.2:c.1259T>A XP_011530330.1:p.Ile420Asn
XM_011532030.2:c.644T>A XP_011530332.1:p.Ile215Asn
NM_000297.4:c.1484T>A MANE Select NP_000288.1:p.Ile495Asn
NR_156488.2:n.1583T>A