Canonical Allele Identifier: CA357625088
Gene: PKD2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007819T>A , CM000666.2:g.88007819T>A GRCh38
NC_000004.11:g.88928971T>A , CM000666.1:g.88928971T>A GRCh37
NC_000004.10:g.89147995T>A NCBI36
NG_008604.1:g.5152T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.86T>A MANE Select ENSP00000237596.2:p.Leu29Gln
ENST00000237596.6:c.86T>A ENSP00000237596.2:p.Leu29Gln
NM_000297.3:c.86T>A NP_000288.1:p.Leu29Gln
XM_011532028.1:c.86T>A XP_011530330.1:p.Leu29Gln
XR_244632.2:n.181T>A
NR_156488.1:n.173T>A
XM_011532028.2:c.86T>A XP_011530330.1:p.Leu29Gln
NM_000297.4:c.86T>A MANE Select NP_000288.1:p.Leu29Gln
NR_156488.2:n.185T>A