Canonical Allele Identifier: CA357627114
Gene: PKD2 HGNC NCBI

Linked Data

dbSNP Id: rs1182371935
MyVariant Identifiers: chr4:g.88929438C>A (hg19) chr4:g.88008286C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88008286C>A , CM000666.2:g.88008286C>A GRCh38
NC_000004.11:g.88929438C>A , CM000666.1:g.88929438C>A GRCh37
NC_000004.10:g.89148462C>A NCBI36
NG_008604.1:g.5619C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.553C>A MANE Select ENSP00000237596.2:p.Pro185Thr
ENST00000237596.6:c.553C>A ENSP00000237596.2:p.Pro185Thr
ENST00000506727.1:n.55C>A
NM_000297.3:c.553C>A NP_000288.1:p.Pro185Thr
XM_011532028.1:c.553C>A XP_011530330.1:p.Pro185Thr
XR_244632.2:n.648C>A
NR_156488.1:n.640C>A
XM_011532028.2:c.553C>A XP_011530330.1:p.Pro185Thr
NM_000297.4:c.553C>A MANE Select NP_000288.1:p.Pro185Thr
NR_156488.2:n.652C>A
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