Canonical Allele Identifier: CA357626309
Gene: PKD2 HGNC NCBI

Linked Data

gnomAD v4: 4-88008080-T-C
MyVariant Identifiers: chr4:g.88929232T>C (hg19) chr4:g.88008080T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88008080T>C , CM000666.2:g.88008080T>C GRCh38
NC_000004.11:g.88929232T>C , CM000666.1:g.88929232T>C GRCh37
NC_000004.10:g.89148256T>C NCBI36
NG_008604.1:g.5413T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.347T>C MANE Select ENSP00000237596.2:p.Val116Ala
ENST00000237596.6:c.347T>C ENSP00000237596.2:p.Val116Ala
NM_000297.3:c.347T>C NP_000288.1:p.Val116Ala
XM_011532028.1:c.347T>C XP_011530330.1:p.Val116Ala
XR_244632.2:n.442T>C
NR_156488.1:n.434T>C
XM_011532028.2:c.347T>C XP_011530330.1:p.Val116Ala
NM_000297.4:c.347T>C MANE Select NP_000288.1:p.Val116Ala
NR_156488.2:n.446T>C
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