Canonical Allele Identifier: CA357625365
Gene: PKD2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007869C>G , CM000666.2:g.88007869C>G GRCh38
NC_000004.11:g.88929021C>G , CM000666.1:g.88929021C>G GRCh37
NC_000004.10:g.89148045C>G NCBI36
NG_008604.1:g.5202C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.136C>G MANE Select ENSP00000237596.2:p.Leu46Val
ENST00000237596.6:c.136C>G ENSP00000237596.2:p.Leu46Val
NM_000297.3:c.136C>G NP_000288.1:p.Leu46Val
XM_011532028.1:c.136C>G XP_011530330.1:p.Leu46Val
XR_244632.2:n.231C>G
NR_156488.1:n.223C>G
XM_011532028.2:c.136C>G XP_011530330.1:p.Leu46Val
NM_000297.4:c.136C>G MANE Select NP_000288.1:p.Leu46Val
NR_156488.2:n.235C>G