Canonical Allele Identifier: CA2671365135
Gene: PKD2 HGNC NCBI

Linked Data

gnomAD v4: 4-88007713-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007713C>G , CM000666.2:g.88007713C>G GRCh38
NC_000004.11:g.88928865C>G , CM000666.1:g.88928865C>G GRCh37
NC_000004.10:g.89147889C>G NCBI36
NG_008604.1:g.5046C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.-21C>G MANE Select ENSP00000237596.2:n.-21C>G
ENST00000237596.6:c.-21C>G ENSP00000237596.2:n.-21C>G
NM_000297.3:c.-21C>G NP_000288.1:n.-21C>G
XM_011532028.1:c.-21C>G XP_011530330.1:n.-21C>G
XR_244632.2:n.75C>G
NR_156488.1:n.67C>G
XM_011532028.2:c.-21C>G XP_011530330.1:n.-21C>G
NM_000297.4:c.-21C>G MANE Select NP_000288.1:n.-21C>G
NR_156488.2:n.79C>G