Canonical Allele Identifier: CA357625497
Gene: PKD2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.88929045A>C (hg19) chr4:g.88007893A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007893A>C , CM000666.2:g.88007893A>C GRCh38
NC_000004.11:g.88929045A>C , CM000666.1:g.88929045A>C GRCh37
NC_000004.10:g.89148069A>C NCBI36
NG_008604.1:g.5226A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.160A>C MANE Select ENSP00000237596.2:p.Ile54Leu
ENST00000237596.6:c.160A>C ENSP00000237596.2:p.Ile54Leu
NM_000297.3:c.160A>C NP_000288.1:p.Ile54Leu
XM_011532028.1:c.160A>C XP_011530330.1:p.Ile54Leu
XR_244632.2:n.255A>C
NR_156488.1:n.247A>C
XM_011532028.2:c.160A>C XP_011530330.1:p.Ile54Leu
NM_000297.4:c.160A>C MANE Select NP_000288.1:p.Ile54Leu
NR_156488.2:n.259A>C
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