Canonical Allele Identifier: CA2601524236
Gene: PKD2 HGNC NCBI

Linked Data

dbSNP Id: rs1726267575
gnomAD v3: 4-88008376-G-A
gnomAD v4: 4-88008376-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88008376G>A , CM000666.2:g.88008376G>A GRCh38
NC_000004.11:g.88929528G>A , CM000666.1:g.88929528G>A GRCh37
NC_000004.10:g.89148552G>A NCBI36
NG_008604.1:g.5709G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.595+48G>A MANE Select ENSP00000237596.2:n.595+48G>A
ENST00000237596.6:c.595+48G>A ENSP00000237596.2:n.595+48G>A
ENST00000506727.1:n.97+48G>A
NM_000297.3:c.595+48G>A NP_000288.1:n.595+48G>A
XM_011532028.1:c.595+48G>A XP_011530330.1:n.595+48G>A
XR_244632.2:n.690+48G>A
NR_156488.1:n.682+48G>A
XM_011532028.2:c.595+48G>A XP_011530330.1:n.595+48G>A
NM_000297.4:c.595+48G>A MANE Select NP_000288.1:n.595+48G>A
NR_156488.2:n.694+48G>A
Search 100 bp 5'
Search 100 bp 3'