Canonical Allele Identifier: CA2671365074
Gene: PKD2 HGNC NCBI

Linked Data

gnomAD v4: 4-88007679-C-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007679C>G , CM000666.2:g.88007679C>G GRCh38
NC_000004.11:g.88928831C>G , CM000666.1:g.88928831C>G GRCh37
NC_000004.10:g.89147855C>G NCBI36
NG_008604.1:g.5012C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.-55C>G MANE Select ENSP00000237596.2:n.-55C>G
ENST00000237596.6:c.-55C>G ENSP00000237596.2:n.-55C>G
NM_000297.3:c.-55C>G NP_000288.1:n.-55C>G
XM_011532028.1:c.-55C>G XP_011530330.1:n.-55C>G
XR_244632.2:n.41C>G
NR_156488.1:n.33C>G
XM_011532028.2:c.-55C>G XP_011530330.1:n.-55C>G
NM_000297.4:c.-55C>G MANE Select NP_000288.1:n.-55C>G
NR_156488.2:n.45C>G
Search 100 bp 5'
Search 100 bp 3'