Canonical Allele Identifier: CA357627189
Gene: PKD2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.88929457A>C (hg19) chr4:g.88008305A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88008305A>C , CM000666.2:g.88008305A>C GRCh38
NC_000004.11:g.88929457A>C , CM000666.1:g.88929457A>C GRCh37
NC_000004.10:g.89148481A>C NCBI36
NG_008604.1:g.5638A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.572A>C MANE Select ENSP00000237596.2:p.Glu191Ala
ENST00000237596.6:c.572A>C ENSP00000237596.2:p.Glu191Ala
ENST00000506727.1:n.74A>C
NM_000297.3:c.572A>C NP_000288.1:p.Glu191Ala
XM_011532028.1:c.572A>C XP_011530330.1:p.Glu191Ala
XR_244632.2:n.667A>C
NR_156488.1:n.659A>C
XM_011532028.2:c.572A>C XP_011530330.1:p.Glu191Ala
NM_000297.4:c.572A>C MANE Select NP_000288.1:p.Glu191Ala
NR_156488.2:n.671A>C
Search 100 bp 5'
Search 100 bp 3'