Canonical Allele Identifier: CA2671365137
Gene: PKD2 HGNC NCBI

Linked Data

gnomAD v4: 4-88007714-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007714G>A , CM000666.2:g.88007714G>A GRCh38
NC_000004.11:g.88928866G>A , CM000666.1:g.88928866G>A GRCh37
NC_000004.10:g.89147890G>A NCBI36
NG_008604.1:g.5047G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.-20G>A MANE Select ENSP00000237596.2:n.-20G>A
ENST00000237596.6:c.-20G>A ENSP00000237596.2:n.-20G>A
NM_000297.3:c.-20G>A NP_000288.1:n.-20G>A
XM_011532028.1:c.-20G>A XP_011530330.1:n.-20G>A
XR_244632.2:n.76G>A
NR_156488.1:n.68G>A
XM_011532028.2:c.-20G>A XP_011530330.1:n.-20G>A
NM_000297.4:c.-20G>A MANE Select NP_000288.1:n.-20G>A
NR_156488.2:n.80G>A
Search 100 bp 5'
Search 100 bp 3'