Canonical Allele Identifier: CA357626520
Gene: PKD2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.88929291G>C (hg19) chr4:g.88008139G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88008139G>C , CM000666.2:g.88008139G>C GRCh38
NC_000004.11:g.88929291G>C , CM000666.1:g.88929291G>C GRCh37
NC_000004.10:g.89148315G>C NCBI36
NG_008604.1:g.5472G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.406G>C MANE Select ENSP00000237596.2:p.Ala136Pro
ENST00000237596.6:c.406G>C ENSP00000237596.2:p.Ala136Pro
NM_000297.3:c.406G>C NP_000288.1:p.Ala136Pro
XM_011532028.1:c.406G>C XP_011530330.1:p.Ala136Pro
XR_244632.2:n.501G>C
NR_156488.1:n.493G>C
XM_011532028.2:c.406G>C XP_011530330.1:p.Ala136Pro
NM_000297.4:c.406G>C MANE Select NP_000288.1:p.Ala136Pro
NR_156488.2:n.505G>C
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