Canonical Allele Identifier: CA10618543
Gene: PKD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 350007
ClinVar RCV Id: RCV000385572 RCV001591012
dbSNP Id: rs529779778
gnomAD v2: 4-88928804-G-C
gnomAD v3: 4-88007652-G-C
gnomAD v4: 4-88007652-G-C
MyVariant Identifiers: chr4:g.88928804G>C (hg19) chr4:g.88007652G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007652G>C , CM000666.2:g.88007652G>C GRCh38
NC_000004.11:g.88928804G>C , CM000666.1:g.88928804G>C GRCh37
NC_000004.10:g.89147828G>C NCBI36
NG_008604.1:g.4985G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.-82G>C MANE Select ENSP00000237596.2:n.-82G>C
NM_000297.3:c.-82G>C NP_000288.1:n.-82G>C
XM_011532028.1:c.-82G>C XP_011530330.1:n.-82G>C
XR_244632.2:n.14G>C
NR_156488.1:n.6G>C
NM_000297.4:c.-82G>C MANE Select NP_000288.1:n.-82G>C
NR_156488.2:n.18G>C
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