Canonical Allele Identifier: CA2671365214
Gene: PKD2 HGNC NCBI

Linked Data

gnomAD v4: 4-88008156-T-TG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88008161dup , CM000666.2:g.88008161dup GRCh38
NC_000004.11:g.88929313dup , CM000666.1:g.88929313dup GRCh37
NC_000004.10:g.89148337dup NCBI36
NG_008604.1:g.5494dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.428dup MANE Select ENSP00000237596.2:p.Tyr144LeufsTer?
ENST00000237596.6:c.428dup ENSP00000237596.2:p.Tyr144LeufsTer?
NM_000297.3:c.428dup NP_000288.1:p.Tyr144LeufsTer?
XM_011532028.1:c.428dup XP_011530330.1:p.Tyr144LeufsTer?
XR_244632.2:n.523dup
NR_156488.1:n.515dup
XM_011532028.2:c.428dup XP_011530330.1:p.Tyr144LeufsTer?
NM_000297.4:c.428dup MANE Select NP_000288.1:p.Tyr144LeufsTer?
NR_156488.2:n.527dup
Search 100 bp 5'
Search 100 bp 3'