Canonical Allele Identifier: CA357626806
Gene: PKD2 HGNC NCBI

Linked Data

gnomAD v4: 4-88008210-C-G
MyVariant Identifiers: chr4:g.88929362C>G (hg19) chr4:g.88008210C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88008210C>G , CM000666.2:g.88008210C>G GRCh38
NC_000004.11:g.88929362C>G , CM000666.1:g.88929362C>G GRCh37
NC_000004.10:g.89148386C>G NCBI36
NG_008604.1:g.5543C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.477C>G MANE Select ENSP00000237596.2:p.Asp159Glu
ENST00000237596.6:c.477C>G ENSP00000237596.2:p.Asp159Glu
NM_000297.3:c.477C>G NP_000288.1:p.Asp159Glu
XM_011532028.1:c.477C>G XP_011530330.1:p.Asp159Glu
XR_244632.2:n.572C>G
NR_156488.1:n.564C>G
XM_011532028.2:c.477C>G XP_011530330.1:p.Asp159Glu
NM_000297.4:c.477C>G MANE Select NP_000288.1:p.Asp159Glu
NR_156488.2:n.576C>G
Search 100 bp 5'
Search 100 bp 3'