Canonical Allele Identifier: CA2671365173
Gene: PKD2 HGNC NCBI

Linked Data

gnomAD v4: 4-88007769-C-CGGGGACGCCAA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007771_88007781dup , CM000666.2:g.88007771_88007781dup GRCh38
NC_000004.11:g.88928923_88928933dup , CM000666.1:g.88928923_88928933dup GRCh37
NC_000004.10:g.89147947_89147957dup NCBI36
NG_008604.1:g.5104_5114dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.38_48dup MANE Select ENSP00000237596.2:p.Arg17GlyfsTer17
ENST00000237596.6:c.38_48dup ENSP00000237596.2:p.Arg17GlyfsTer17
NM_000297.3:c.38_48dup NP_000288.1:p.Arg17GlyfsTer17
XM_011532028.1:c.38_48dup XP_011530330.1:p.Arg17GlyfsTer17
XR_244632.2:n.133_143dup
NR_156488.1:n.125_135dup
XM_011532028.2:c.38_48dup XP_011530330.1:p.Arg17GlyfsTer17
NM_000297.4:c.38_48dup MANE Select NP_000288.1:p.Arg17GlyfsTer17
NR_156488.2:n.137_147dup
Search 100 bp 5'
Search 100 bp 3'