Canonical Allele Identifier: CA100873033
Gene: PKD2 HGNC NCBI

Linked Data

dbSNP Id: rs534869626
gnomAD v3: 4-88007892-G-A
gnomAD v4: 4-88007892-G-A
MyVariant Identifiers: chr4:g.88929044G>A (hg19) chr4:g.88007892G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007892G>A , CM000666.2:g.88007892G>A GRCh38
NC_000004.11:g.88929044G>A , CM000666.1:g.88929044G>A GRCh37
NC_000004.10:g.89148068G>A NCBI36
NG_008604.1:g.5225G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.159G>A MANE Select ENSP00000237596.2:p.Glu53=
ENST00000237596.6:c.159G>A ENSP00000237596.2:p.Glu53=
NM_000297.3:c.159G>A NP_000288.1:p.Glu53=
XM_011532028.1:c.159G>A XP_011530330.1:p.Glu53=
XR_244632.2:n.254G>A
NR_156488.1:n.246G>A
XM_011532028.2:c.159G>A XP_011530330.1:p.Glu53=
NM_000297.4:c.159G>A MANE Select NP_000288.1:p.Glu53=
NR_156488.2:n.258G>A
Search 100 bp 5'
Search 100 bp 3'