Canonical Allele Identifier: CA3003701
Gene: PKD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 903898
ClinVar RCV Id: RCV001151505
dbSNP Id: rs770096557
ExAC: 4:88928839 G / C
gnomAD v2: 4-88928839-G-C
gnomAD v3: 4-88007687-G-C
gnomAD v4: 4-88007687-G-C
MyVariant Identifiers: chr4:g.88928839G>C (hg19) chr4:g.88007687G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007687G>C , CM000666.2:g.88007687G>C GRCh38
NC_000004.11:g.88928839G>C , CM000666.1:g.88928839G>C GRCh37
NC_000004.10:g.89147863G>C NCBI36
NG_008604.1:g.5020G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.-47G>C MANE Select ENSP00000237596.2:n.-47G>C
ENST00000237596.6:c.-47G>C ENSP00000237596.2:n.-47G>C
NM_000297.3:c.-47G>C NP_000288.1:n.-47G>C
XM_011532028.1:c.-47G>C XP_011530330.1:n.-47G>C
XR_244632.2:n.49G>C
NR_156488.1:n.41G>C
XM_011532028.2:c.-47G>C XP_011530330.1:n.-47G>C
NM_000297.4:c.-47G>C MANE Select NP_000288.1:n.-47G>C
NR_156488.2:n.53G>C
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