Canonical Allele Identifier: CA357626696
Gene: PKD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2151320
ClinVar RCV Id: RCV003074714
dbSNP Id: rs1391653115
gnomAD v3: 4-88008184-A-G
gnomAD v4: 4-88008184-A-G
MyVariant Identifiers: chr4:g.88929336A>G (hg19) chr4:g.88008184A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88008184A>G , CM000666.2:g.88008184A>G GRCh38
NC_000004.11:g.88929336A>G , CM000666.1:g.88929336A>G GRCh37
NC_000004.10:g.89148360A>G NCBI36
NG_008604.1:g.5517A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.451A>G MANE Select ENSP00000237596.2:p.Ser151Gly
ENST00000237596.6:c.451A>G ENSP00000237596.2:p.Ser151Gly
NM_000297.3:c.451A>G NP_000288.1:p.Ser151Gly
XM_011532028.1:c.451A>G XP_011530330.1:p.Ser151Gly
XR_244632.2:n.546A>G
NR_156488.1:n.538A>G
XM_011532028.2:c.451A>G XP_011530330.1:p.Ser151Gly
NM_000297.4:c.451A>G MANE Select NP_000288.1:p.Ser151Gly
NR_156488.2:n.550A>G
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