Canonical Allele Identifier: CA100873155
Gene: PKD2 HGNC NCBI

Linked Data

dbSNP Id: rs899200591
gnomAD v3: 4-88008055-G-A
gnomAD v4: 4-88008055-G-A
MyVariant Identifiers: chr4:g.88929207G>A (hg19) chr4:g.88008055G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88008055G>A , CM000666.2:g.88008055G>A GRCh38
NC_000004.11:g.88929207G>A , CM000666.1:g.88929207G>A GRCh37
NC_000004.10:g.89148231G>A NCBI36
NG_008604.1:g.5388G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.322G>A MANE Select ENSP00000237596.2:p.Gly108Ser
ENST00000237596.6:c.322G>A ENSP00000237596.2:p.Gly108Ser
NM_000297.3:c.322G>A NP_000288.1:p.Gly108Ser
XM_011532028.1:c.322G>A XP_011530330.1:p.Gly108Ser
XR_244632.2:n.417G>A
NR_156488.1:n.409G>A
XM_011532028.2:c.322G>A XP_011530330.1:p.Gly108Ser
NM_000297.4:c.322G>A MANE Select NP_000288.1:p.Gly108Ser
NR_156488.2:n.421G>A
Search 100 bp 5'
Search 100 bp 3'