Canonical Allele Identifier: CA357632862
Gene: PKD2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88038388A>T , CM000666.2:g.88038388A>T GRCh38
NC_000004.11:g.88959540A>T , CM000666.1:g.88959540A>T GRCh37
NC_000004.10:g.89178564A>T NCBI36
NG_008604.1:g.35721A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000237596.7:c.981A>T MANE Select ENSP00000237596.2:p.Arg327Ser
ENST00000237596.6:c.981A>T ENSP00000237596.2:p.Arg327Ser
ENST00000506367.1:n.428A>T
NM_000297.3:c.981A>T NP_000288.1:p.Arg327Ser
XM_011532028.1:c.981A>T XP_011530330.1:p.Arg327Ser
XM_011532029.1:c.261A>T XP_011530331.1:p.Arg87Ser
XM_011532030.1:c.141A>T XP_011530332.1:p.Arg47Ser
XR_244632.2:n.1076A>T
NR_156488.1:n.1068A>T
XM_011532028.2:c.981A>T XP_011530330.1:p.Arg327Ser
XM_011532030.2:c.141A>T XP_011530332.1:p.Arg47Ser
NM_000297.4:c.981A>T MANE Select NP_000288.1:p.Arg327Ser
NR_156488.2:n.1080A>T