Canonical Allele Identifier: CA658657390
Gene: PKD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 477627
ClinVar RCV Id: RCV002289770
dbSNP Id: rs1187336837
gnomAD v3: 4-88007930-A-AC
gnomAD v4: 4-88007930-A-AC
MyVariant Identifiers: chr4:g.88929088dup (hg19) chr4:g.88929082_88929083insC (hg19) chr4:g.88007936dup (hg38) chr4:g.88007930_88007931insC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007936dup , CM000666.2:g.88007936dup GRCh38
NC_000004.11:g.88929088dup , CM000666.1:g.88929088dup GRCh37
NC_000004.10:g.89148112dup NCBI36
NG_008604.1:g.5269dup

Transcript Alleles

HGVS Amino-acid change
ENST00000237596.7:c.203dup MANE Select ENSP00000237596.2:p.Ala69GlyfsTer23
ENST00000237596.6:c.203dup ENSP00000237596.2:p.Ala69GlyfsTer23
NM_000297.3:c.203dup NP_000288.1:p.Ala69GlyfsTer23
XM_011532028.1:c.203dup XP_011530330.1:p.Ala69GlyfsTer23
XR_244632.2:n.298dup
NR_156488.1:n.290dup
XM_011532028.2:c.203dup XP_011530330.1:p.Ala69GlyfsTer23
NM_000297.4:c.203dup MANE Select NP_000288.1:p.Ala69GlyfsTer23
NR_156488.2:n.302dup
Search 100 bp 5'
Search 100 bp 3'