Canonical Allele Identifier: CA3003702
Gene: PKD2 HGNC NCBI

Linked Data

dbSNP Id: rs780545127
ExAC: 4:88928845 C / G
gnomAD v2: 4-88928845-C-G
gnomAD v4: 4-88007693-C-G
MyVariant Identifiers: chr4:g.88928845C>G (hg19) chr4:g.88007693C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007693C>G , CM000666.2:g.88007693C>G GRCh38
NC_000004.11:g.88928845C>G , CM000666.1:g.88928845C>G GRCh37
NC_000004.10:g.89147869C>G NCBI36
NG_008604.1:g.5026C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.-41C>G MANE Select ENSP00000237596.2:n.-41C>G
ENST00000237596.6:c.-41C>G ENSP00000237596.2:n.-41C>G
NM_000297.3:c.-41C>G NP_000288.1:n.-41C>G
XM_011532028.1:c.-41C>G XP_011530330.1:n.-41C>G
XR_244632.2:n.55C>G
NR_156488.1:n.47C>G
XM_011532028.2:c.-41C>G XP_011530330.1:n.-41C>G
NM_000297.4:c.-41C>G MANE Select NP_000288.1:n.-41C>G
NR_156488.2:n.59C>G
Search 100 bp 5'
Search 100 bp 3'