Canonical Allele Identifier: CA357624971
Gene: PKD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 994726
ClinVar RCV Id: RCV001288350
dbSNP Id: rs1213258236
gnomAD v3: 4-88007792-C-T
gnomAD v4: 4-88007792-C-T
MyVariant Identifiers: chr4:g.88928944C>T (hg19) chr4:g.88007792C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007792C>T , CM000666.2:g.88007792C>T GRCh38
NC_000004.11:g.88928944C>T , CM000666.1:g.88928944C>T GRCh37
NC_000004.10:g.89147968C>T NCBI36
NG_008604.1:g.5125C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.59C>T MANE Select ENSP00000237596.2:p.Ala20Val
ENST00000237596.6:c.59C>T ENSP00000237596.2:p.Ala20Val
NM_000297.3:c.59C>T NP_000288.1:p.Ala20Val
XM_011532028.1:c.59C>T XP_011530330.1:p.Ala20Val
XR_244632.2:n.154C>T
NR_156488.1:n.146C>T
XM_011532028.2:c.59C>T XP_011530330.1:p.Ala20Val
NM_000297.4:c.59C>T MANE Select NP_000288.1:p.Ala20Val
NR_156488.2:n.158C>T
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