Canonical Allele Identifier: CA357624878
Gene: PKD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2882463
ClinVar RCV Id: RCV003746365
dbSNP Id: rs1228430587
gnomAD v2: 4-88928922-G-C
gnomAD v4: 4-88007770-G-C
MyVariant Identifiers: chr4:g.88928922G>C (hg19) chr4:g.88007770G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007770G>C , CM000666.2:g.88007770G>C GRCh38
NC_000004.11:g.88928922G>C , CM000666.1:g.88928922G>C GRCh37
NC_000004.10:g.89147946G>C NCBI36
NG_008604.1:g.5103G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.37G>C MANE Select ENSP00000237596.2:p.Gly13Arg
ENST00000237596.6:c.37G>C ENSP00000237596.2:p.Gly13Arg
NM_000297.3:c.37G>C NP_000288.1:p.Gly13Arg
XM_011532028.1:c.37G>C XP_011530330.1:p.Gly13Arg
XR_244632.2:n.132G>C
NR_156488.1:n.124G>C
XM_011532028.2:c.37G>C XP_011530330.1:p.Gly13Arg
NM_000297.4:c.37G>C MANE Select NP_000288.1:p.Gly13Arg
NR_156488.2:n.136G>C
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