Canonical Allele Identifier: CA357626181
Gene: PKD2 HGNC NCBI

Linked Data

gnomAD v4: 4-88008053-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88008053A>G , CM000666.2:g.88008053A>G GRCh38
NC_000004.11:g.88929205A>G , CM000666.1:g.88929205A>G GRCh37
NC_000004.10:g.89148229A>G NCBI36
NG_008604.1:g.5386A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.320A>G MANE Select ENSP00000237596.2:p.Glu107Gly
ENST00000237596.6:c.320A>G ENSP00000237596.2:p.Glu107Gly
NM_000297.3:c.320A>G NP_000288.1:p.Glu107Gly
XM_011532028.1:c.320A>G XP_011530330.1:p.Glu107Gly
XR_244632.2:n.415A>G
NR_156488.1:n.407A>G
XM_011532028.2:c.320A>G XP_011530330.1:p.Glu107Gly
NM_000297.4:c.320A>G MANE Select NP_000288.1:p.Glu107Gly
NR_156488.2:n.419A>G