Canonical Allele Identifier: CA357625660
Gene: PKD2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007924C>A , CM000666.2:g.88007924C>A GRCh38
NC_000004.11:g.88929076C>A , CM000666.1:g.88929076C>A GRCh37
NC_000004.10:g.89148100C>A NCBI36
NG_008604.1:g.5257C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.191C>A MANE Select ENSP00000237596.2:p.Ala64Glu
ENST00000237596.6:c.191C>A ENSP00000237596.2:p.Ala64Glu
NM_000297.3:c.191C>A NP_000288.1:p.Ala64Glu
XM_011532028.1:c.191C>A XP_011530330.1:p.Ala64Glu
XR_244632.2:n.286C>A
NR_156488.1:n.278C>A
XM_011532028.2:c.191C>A XP_011530330.1:p.Ala64Glu
NM_000297.4:c.191C>A MANE Select NP_000288.1:p.Ala64Glu
NR_156488.2:n.290C>A