Canonical Allele Identifier: CA357627175
Gene: PKD2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.88929454C>G (hg19) chr4:g.88008302C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88008302C>G , CM000666.2:g.88008302C>G GRCh38
NC_000004.11:g.88929454C>G , CM000666.1:g.88929454C>G GRCh37
NC_000004.10:g.89148478C>G NCBI36
NG_008604.1:g.5635C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.569C>G MANE Select ENSP00000237596.2:p.Ala190Gly
ENST00000237596.6:c.569C>G ENSP00000237596.2:p.Ala190Gly
ENST00000506727.1:n.71C>G
NM_000297.3:c.569C>G NP_000288.1:p.Ala190Gly
XM_011532028.1:c.569C>G XP_011530330.1:p.Ala190Gly
XR_244632.2:n.664C>G
NR_156488.1:n.656C>G
XM_011532028.2:c.569C>G XP_011530330.1:p.Ala190Gly
NM_000297.4:c.569C>G MANE Select NP_000288.1:p.Ala190Gly
NR_156488.2:n.668C>G
Search 100 bp 5'
Search 100 bp 3'