Canonical Allele Identifier: CA440263147
Gene: PKD2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.88967824T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88046672T>G , CM000666.2:g.88046672T>G GRCh38
NC_000004.11:g.88967824T>G , CM000666.1:g.88967824T>G GRCh37
NC_000004.10:g.89186848T>G NCBI36
NG_008604.1:g.44005T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.1350T>G MANE Select ENSP00000237596.2:p.Gly450=
ENST00000237596.6:c.1350T>G ENSP00000237596.2:p.Gly450=
ENST00000508588.5:c.-199+3215T>G ENSP00000427131.1:n.-199+3215T>G
NM_000297.3:c.1350T>G NP_000288.1:p.Gly450=
XM_011532028.1:c.1125T>G XP_011530330.1:p.Gly375=
XM_011532029.1:c.630T>G XP_011530331.1:p.Gly210=
XM_011532030.1:c.510T>G XP_011530332.1:p.Gly170=
XR_244632.2:n.1445T>G
NR_156488.1:n.1437T>G
XM_011532028.2:c.1125T>G XP_011530330.1:p.Gly375=
XM_011532030.2:c.510T>G XP_011530332.1:p.Gly170=
NM_000297.4:c.1350T>G MANE Select NP_000288.1:p.Gly450=
NR_156488.2:n.1449T>G