Canonical Allele Identifier: CA357632884
Gene: PKD2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88038392G>T , CM000666.2:g.88038392G>T GRCh38
NC_000004.11:g.88959544G>T , CM000666.1:g.88959544G>T GRCh37
NC_000004.10:g.89178568G>T NCBI36
NG_008604.1:g.35725G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000237596.7:c.985G>T MANE Select ENSP00000237596.2:p.Gly329Ter
ENST00000237596.6:c.985G>T ENSP00000237596.2:p.Gly329Ter
ENST00000506367.1:n.432G>T
NM_000297.3:c.985G>T NP_000288.1:p.Gly329Ter
XM_011532028.1:c.985G>T XP_011530330.1:p.Gly329Ter
XM_011532029.1:c.265G>T XP_011530331.1:p.Gly89Ter
XM_011532030.1:c.145G>T XP_011530332.1:p.Gly49Ter
XR_244632.2:n.1080G>T
NR_156488.1:n.1072G>T
XM_011532028.2:c.985G>T XP_011530330.1:p.Gly329Ter
XM_011532030.2:c.145G>T XP_011530332.1:p.Gly49Ter
NM_000297.4:c.985G>T MANE Select NP_000288.1:p.Gly329Ter
NR_156488.2:n.1084G>T