Canonical Allele Identifier: CA357633282
Gene: PKD2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88038491A>T , CM000666.2:g.88038491A>T GRCh38
NC_000004.11:g.88959643A>T , CM000666.1:g.88959643A>T GRCh37
NC_000004.10:g.89178667A>T NCBI36
NG_008604.1:g.35824A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.1084A>T MANE Select ENSP00000237596.2:p.Asn362Tyr
ENST00000237596.6:c.1084A>T ENSP00000237596.2:p.Asn362Tyr
ENST00000506367.1:n.531A>T
NM_000297.3:c.1084A>T NP_000288.1:p.Asn362Tyr
XM_011532028.1:c.1084A>T XP_011530330.1:p.Asn362Tyr
XM_011532029.1:c.364A>T XP_011530331.1:p.Asn122Tyr
XM_011532030.1:c.244A>T XP_011530332.1:p.Asn82Tyr
XR_244632.2:n.1179A>T
NR_156488.1:n.1171A>T
XM_011532028.2:c.1084A>T XP_011530330.1:p.Asn362Tyr
XM_011532030.2:c.244A>T XP_011530332.1:p.Asn82Tyr
NM_000297.4:c.1084A>T MANE Select NP_000288.1:p.Asn362Tyr
NR_156488.2:n.1183A>T