Canonical Allele Identifier: CA440296893
Gene: PKD2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.88959532C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88038380C>A , CM000666.2:g.88038380C>A GRCh38
NC_000004.11:g.88959532C>A , CM000666.1:g.88959532C>A GRCh37
NC_000004.10:g.89178556C>A NCBI36
NG_008604.1:g.35713C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000237596.7:c.973C>A MANE Select ENSP00000237596.2:p.Arg325=
ENST00000237596.6:c.973C>A ENSP00000237596.2:p.Arg325=
ENST00000506367.1:n.420C>A
NM_000297.3:c.973C>A NP_000288.1:p.Arg325=
XM_011532028.1:c.973C>A XP_011530330.1:p.Arg325=
XM_011532029.1:c.253C>A XP_011530331.1:p.Arg85=
XM_011532030.1:c.133C>A XP_011530332.1:p.Arg45=
XR_244632.2:n.1068C>A
NR_156488.1:n.1060C>A
XM_011532028.2:c.973C>A XP_011530330.1:p.Arg325=
XM_011532030.2:c.133C>A XP_011530332.1:p.Arg45=
NM_000297.4:c.973C>A MANE Select NP_000288.1:p.Arg325=
NR_156488.2:n.1072C>A