Canonical Allele Identifier: CA553085879
Gene: PKD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1395094
ClinVar RCV Id: RCV001891307
dbSNP Id: rs1371793191
gnomAD v2: 4-88929418-T-TCCC
gnomAD v3: 4-88008266-T-TCCC
gnomAD v4: 4-88008266-T-TCCC
MyVariant Identifiers: chr4:g.88929418_88929419insCCC (hg19) chr4:g.88008266_88008267insCCC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88008269_88008271dup , CM000666.2:g.88008269_88008271dup GRCh38
NC_000004.11:g.88929421_88929423dup , CM000666.1:g.88929421_88929423dup GRCh37
NC_000004.10:g.89148445_89148447dup NCBI36
NG_008604.1:g.5602_5604dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.536_538dup MANE Select ENSP00000237596.2:p.Pro179_Leu180insPro
ENST00000237596.6:c.536_538dup ENSP00000237596.2:p.Pro179_Leu180insPro
ENST00000506727.1:n.38_40dup
NM_000297.3:c.536_538dup NP_000288.1:p.Pro179_Leu180insPro
XM_011532028.1:c.536_538dup XP_011530330.1:p.Pro179_Leu180insPro
XR_244632.2:n.631_633dup
NR_156488.1:n.623_625dup
XM_011532028.2:c.536_538dup XP_011530330.1:p.Pro179_Leu180insPro
NM_000297.4:c.536_538dup MANE Select NP_000288.1:p.Pro179_Leu180insPro
NR_156488.2:n.635_637dup
Search 100 bp 5'
Search 100 bp 3'