Canonical Allele Identifier: CA10618560
Gene: PKD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 350012
ClinVar RCV Id: RCV000401945 RCV001221074 RCV002523489 RCV003897791
dbSNP Id: rs886059694
gnomAD v2: 4-88929039-C-A
gnomAD v3: 4-88007887-C-A
gnomAD v4: 4-88007887-C-A
MyVariant Identifiers: chr4:g.88929039C>A (hg19) chr4:g.88007887C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007887C>A , CM000666.2:g.88007887C>A GRCh38
NC_000004.11:g.88929039C>A , CM000666.1:g.88929039C>A GRCh37
NC_000004.10:g.89148063C>A NCBI36
NG_008604.1:g.5220C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.154C>A MANE Select ENSP00000237596.2:p.Leu52Met
ENST00000237596.6:c.154C>A ENSP00000237596.2:p.Leu52Met
NM_000297.3:c.154C>A NP_000288.1:p.Leu52Met
XM_011532028.1:c.154C>A XP_011530330.1:p.Leu52Met
XR_244632.2:n.249C>A
NR_156488.1:n.241C>A
XM_011532028.2:c.154C>A XP_011530330.1:p.Leu52Met
NM_000297.4:c.154C>A MANE Select NP_000288.1:p.Leu52Met
NR_156488.2:n.253C>A
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