Canonical Allele Identifier: CA440296790
Gene: PKD2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.88929236G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88008084G>A , CM000666.2:g.88008084G>A GRCh38
NC_000004.11:g.88929236G>A , CM000666.1:g.88929236G>A GRCh37
NC_000004.10:g.89148260G>A NCBI36
NG_008604.1:g.5417G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.351G>A MANE Select ENSP00000237596.2:p.Glu117=
ENST00000237596.6:c.351G>A ENSP00000237596.2:p.Glu117=
NM_000297.3:c.351G>A NP_000288.1:p.Glu117=
XM_011532028.1:c.351G>A XP_011530330.1:p.Glu117=
XR_244632.2:n.446G>A
NR_156488.1:n.438G>A
XM_011532028.2:c.351G>A XP_011530330.1:p.Glu117=
NM_000297.4:c.351G>A MANE Select NP_000288.1:p.Glu117=
NR_156488.2:n.450G>A