Canonical Allele Identifier: CA440296899
Gene: PKD2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.88959534A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88038382A>T , CM000666.2:g.88038382A>T GRCh38
NC_000004.11:g.88959534A>T , CM000666.1:g.88959534A>T GRCh37
NC_000004.10:g.89178558A>T NCBI36
NG_008604.1:g.35715A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000237596.7:c.975A>T MANE Select ENSP00000237596.2:p.Arg325=
ENST00000237596.6:c.975A>T ENSP00000237596.2:p.Arg325=
ENST00000506367.1:n.422A>T
NM_000297.3:c.975A>T NP_000288.1:p.Arg325=
XM_011532028.1:c.975A>T XP_011530330.1:p.Arg325=
XM_011532029.1:c.255A>T XP_011530331.1:p.Arg85=
XM_011532030.1:c.135A>T XP_011530332.1:p.Arg45=
XR_244632.2:n.1070A>T
NR_156488.1:n.1062A>T
XM_011532028.2:c.975A>T XP_011530330.1:p.Arg325=
XM_011532030.2:c.135A>T XP_011530332.1:p.Arg45=
NM_000297.4:c.975A>T MANE Select NP_000288.1:p.Arg325=
NR_156488.2:n.1074A>T