Canonical Allele Identifier: CA357624764
Gene: PKD2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88065493A>T , CM000666.2:g.88065493A>T GRCh38
NC_000004.11:g.88986645A>T , CM000666.1:g.88986645A>T GRCh37
NC_000004.10:g.89205669A>T NCBI36
NG_008604.1:g.62826A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.2238A>T MANE Select ENSP00000237596.2:p.Lys746Asn
ENST00000237596.6:c.2238A>T ENSP00000237596.2:p.Lys746Asn
ENST00000502363.1:c.492A>T ENSP00000425289.1:p.Lys164Asn
ENST00000508588.5:c.492A>T ENSP00000427131.1:p.Lys164Asn
ENST00000511337.5:n.490A>T
ENST00000512858.1:n.450A>T
NM_000297.3:c.2238A>T NP_000288.1:p.Lys746Asn
XM_011532028.1:c.2013A>T XP_011530330.1:p.Lys671Asn
XM_011532029.1:c.1518A>T XP_011530331.1:p.Lys506Asn
XM_011532030.1:c.1398A>T XP_011530332.1:p.Lys466Asn
NR_156488.1:n.2204A>T
XM_011532028.2:c.2013A>T XP_011530330.1:p.Lys671Asn
XM_011532030.2:c.1398A>T XP_011530332.1:p.Lys466Asn
NM_000297.4:c.2238A>T MANE Select NP_000288.1:p.Lys746Asn
NR_156488.2:n.2216A>T