Canonical Allele Identifier: CA440296898
Gene: PKD2 HGNC NCBI

Linked Data

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

Genomic Alleles

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

Transcript Alleles

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