Canonical Allele Identifier: CA357624948
Gene: PKD2 HGNC NCBI

Linked Data

gnomAD v4: 4-88007786-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007786C>G , CM000666.2:g.88007786C>G GRCh38
NC_000004.11:g.88928938C>G , CM000666.1:g.88928938C>G GRCh37
NC_000004.10:g.89147962C>G NCBI36
NG_008604.1:g.5119C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.53C>G MANE Select ENSP00000237596.2:p.Pro18Arg
ENST00000237596.6:c.53C>G ENSP00000237596.2:p.Pro18Arg
NM_000297.3:c.53C>G NP_000288.1:p.Pro18Arg
XM_011532028.1:c.53C>G XP_011530330.1:p.Pro18Arg
XR_244632.2:n.148C>G
NR_156488.1:n.140C>G
XM_011532028.2:c.53C>G XP_011530330.1:p.Pro18Arg
NM_000297.4:c.53C>G MANE Select NP_000288.1:p.Pro18Arg
NR_156488.2:n.152C>G