Canonical Allele Identifier: CA357625470
Gene: PKD2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.88929040T>A (hg19) chr4:g.88007888T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007888T>A , CM000666.2:g.88007888T>A GRCh38
NC_000004.11:g.88929040T>A , CM000666.1:g.88929040T>A GRCh37
NC_000004.10:g.89148064T>A NCBI36
NG_008604.1:g.5221T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.155T>A MANE Select ENSP00000237596.2:p.Leu52Gln
ENST00000237596.6:c.155T>A ENSP00000237596.2:p.Leu52Gln
NM_000297.3:c.155T>A NP_000288.1:p.Leu52Gln
XM_011532028.1:c.155T>A XP_011530330.1:p.Leu52Gln
XR_244632.2:n.250T>A
NR_156488.1:n.242T>A
XM_011532028.2:c.155T>A XP_011530330.1:p.Leu52Gln
NM_000297.4:c.155T>A MANE Select NP_000288.1:p.Leu52Gln
NR_156488.2:n.254T>A
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