Canonical Allele Identifier: CA3003954
Gene: PKD2 HGNC NCBI

Linked Data

dbSNP Id: rs779703488
gnomAD v2: 4-88967972-C-G
gnomAD v4: 4-88046820-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88046820C>G , CM000666.2:g.88046820C>G GRCh38
NC_000004.11:g.88967972C>G , CM000666.1:g.88967972C>G GRCh37
NC_000004.10:g.89186996C>G NCBI36
NG_008604.1:g.44153C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.1498C>G MANE Select ENSP00000237596.2:p.Leu500Val
ENST00000237596.6:c.1498C>G ENSP00000237596.2:p.Leu500Val
ENST00000508588.5:c.-199+3363C>G ENSP00000427131.1:n.-199+3363C>G
NM_000297.3:c.1498C>G NP_000288.1:p.Leu500Val
XM_011532028.1:c.1273C>G XP_011530330.1:p.Leu425Val
XM_011532029.1:c.778C>G XP_011530331.1:p.Leu260Val
XM_011532030.1:c.658C>G XP_011530332.1:p.Leu220Val
XR_244632.2:n.1593C>G
NR_156488.1:n.1585C>G
XM_011532028.2:c.1273C>G XP_011530330.1:p.Leu425Val
XM_011532030.2:c.658C>G XP_011530332.1:p.Leu220Val
NM_000297.4:c.1498C>G MANE Select NP_000288.1:p.Leu500Val
NR_156488.2:n.1597C>G