Canonical Allele Identifier: CA2671365258
Gene: PKD2 HGNC NCBI

Linked Data

gnomAD v4: 4-88008362-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88008362G>A , CM000666.2:g.88008362G>A GRCh38
NC_000004.11:g.88929514G>A , CM000666.1:g.88929514G>A GRCh37
NC_000004.10:g.89148538G>A NCBI36
NG_008604.1:g.5695G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.595+34G>A MANE Select ENSP00000237596.2:n.595+34G>A
ENST00000237596.6:c.595+34G>A ENSP00000237596.2:n.595+34G>A
ENST00000506727.1:n.97+34G>A
NM_000297.3:c.595+34G>A NP_000288.1:n.595+34G>A
XM_011532028.1:c.595+34G>A XP_011530330.1:n.595+34G>A
XR_244632.2:n.690+34G>A
NR_156488.1:n.682+34G>A
XM_011532028.2:c.595+34G>A XP_011530330.1:n.595+34G>A
NM_000297.4:c.595+34G>A MANE Select NP_000288.1:n.595+34G>A
NR_156488.2:n.694+34G>A