Canonical Allele Identifier: CA357626227
Gene: PKD2 HGNC NCBI

Linked Data

gnomAD v4: 4-88008064-G-C
MyVariant Identifiers: chr4:g.88929216G>C (hg19) chr4:g.88008064G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88008064G>C , CM000666.2:g.88008064G>C GRCh38
NC_000004.11:g.88929216G>C , CM000666.1:g.88929216G>C GRCh37
NC_000004.10:g.89148240G>C NCBI36
NG_008604.1:g.5397G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.331G>C MANE Select ENSP00000237596.2:p.Val111Leu
ENST00000237596.6:c.331G>C ENSP00000237596.2:p.Val111Leu
NM_000297.3:c.331G>C NP_000288.1:p.Val111Leu
XM_011532028.1:c.331G>C XP_011530330.1:p.Val111Leu
XR_244632.2:n.426G>C
NR_156488.1:n.418G>C
XM_011532028.2:c.331G>C XP_011530330.1:p.Val111Leu
NM_000297.4:c.331G>C MANE Select NP_000288.1:p.Val111Leu
NR_156488.2:n.430G>C
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