Canonical Allele Identifier: CA2671365185
Gene: PKD2 HGNC NCBI

Linked Data

gnomAD v4: 4-88007909-TCCGGCAGGCGGCCGCGCGGGACCCCCCGGCCGGAGCCGCGGCCTCCCCTTCTCCTCCGCTCTCGTCGTGCTC-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007920_88007991del , CM000666.2:g.88007920_88007991del GRCh38
NC_000004.11:g.88929072_88929143del , CM000666.1:g.88929072_88929143del GRCh37
NC_000004.10:g.89148096_89148167del NCBI36
NG_008604.1:g.5253_5324del

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.187_258del MANE Select ENSP00000237596.2:p.Ala63_Ala86del
ENST00000237596.6:c.187_258del ENSP00000237596.2:p.Ala63_Ala86del
NM_000297.3:c.187_258del NP_000288.1:p.Ala63_Ala86del
XM_011532028.1:c.187_258del XP_011530330.1:p.Ala63_Ala86del
XR_244632.2:n.282_353del
NR_156488.1:n.274_345del
XM_011532028.2:c.187_258del XP_011530330.1:p.Ala63_Ala86del
NM_000297.4:c.187_258del MANE Select NP_000288.1:p.Ala63_Ala86del
NR_156488.2:n.286_357del
Search 100 bp 5'
Search 100 bp 3'