Canonical Allele Identifier: CA357624920
Gene: PKD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2960211
ClinVar RCV Id: RCV003814971
dbSNP Id: rs1241520333
gnomAD v3: 4-88007779-A-G
gnomAD v4: 4-88007779-A-G
MyVariant Identifiers: chr4:g.88928931A>G (hg19) chr4:g.88007779A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007779A>G , CM000666.2:g.88007779A>G GRCh38
NC_000004.11:g.88928931A>G , CM000666.1:g.88928931A>G GRCh37
NC_000004.10:g.89147955A>G NCBI36
NG_008604.1:g.5112A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.46A>G MANE Select ENSP00000237596.2:p.Lys16Glu
ENST00000237596.6:c.46A>G ENSP00000237596.2:p.Lys16Glu
NM_000297.3:c.46A>G NP_000288.1:p.Lys16Glu
XM_011532028.1:c.46A>G XP_011530330.1:p.Lys16Glu
XR_244632.2:n.141A>G
NR_156488.1:n.133A>G
XM_011532028.2:c.46A>G XP_011530330.1:p.Lys16Glu
NM_000297.4:c.46A>G MANE Select NP_000288.1:p.Lys16Glu
NR_156488.2:n.145A>G
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