Canonical Allele Identifier: CA357627213
Gene: PKD2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.88929463T>A (hg19) chr4:g.88008311T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88008311T>A , CM000666.2:g.88008311T>A GRCh38
NC_000004.11:g.88929463T>A , CM000666.1:g.88929463T>A GRCh37
NC_000004.10:g.89148487T>A NCBI36
NG_008604.1:g.5644T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.578T>A MANE Select ENSP00000237596.2:p.Leu193Gln
ENST00000237596.6:c.578T>A ENSP00000237596.2:p.Leu193Gln
ENST00000506727.1:n.80T>A
NM_000297.3:c.578T>A NP_000288.1:p.Leu193Gln
XM_011532028.1:c.578T>A XP_011530330.1:p.Leu193Gln
XR_244632.2:n.673T>A
NR_156488.1:n.665T>A
XM_011532028.2:c.578T>A XP_011530330.1:p.Leu193Gln
NM_000297.4:c.578T>A MANE Select NP_000288.1:p.Leu193Gln
NR_156488.2:n.677T>A
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