Canonical Allele Identifier: CA357632362
Gene: PKD2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88038281T>A , CM000666.2:g.88038281T>A GRCh38
NC_000004.11:g.88959433T>A , CM000666.1:g.88959433T>A GRCh37
NC_000004.10:g.89178457T>A NCBI36
NG_008604.1:g.35614T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000237596.7:c.874T>A MANE Select ENSP00000237596.2:p.Tyr292Asn
ENST00000237596.6:c.874T>A ENSP00000237596.2:p.Tyr292Asn
ENST00000506367.1:n.321T>A
ENST00000506727.1:n.460T>A
NM_000297.3:c.874T>A NP_000288.1:p.Tyr292Asn
XM_011532028.1:c.874T>A XP_011530330.1:p.Tyr292Asn
XM_011532029.1:c.154T>A XP_011530331.1:p.Tyr52Asn
XM_011532030.1:c.34T>A XP_011530332.1:p.Tyr12Asn
XR_244632.2:n.969T>A
NR_156488.1:n.961T>A
XM_011532028.2:c.874T>A XP_011530330.1:p.Tyr292Asn
XM_011532030.2:c.34T>A XP_011530332.1:p.Tyr12Asn
NM_000297.4:c.874T>A MANE Select NP_000288.1:p.Tyr292Asn
NR_156488.2:n.973T>A