Canonical Allele Identifier: CA220615
Gene: PKD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 92794
ClinVar RCV Id: RCV000078581
dbSNP Id: rs398123307
gnomAD v4: 4-88057990-C-A
MyVariant Identifiers: chr4:g.88979142C>A (hg19) chr4:g.88057990C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88057990C>A , CM000666.2:g.88057990C>A GRCh38
NC_000004.11:g.88979142C>A , CM000666.1:g.88979142C>A GRCh37
NC_000004.10:g.89198166C>A NCBI36
NG_008604.1:g.55323C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000237596.7:c.1906C>A MANE Select ENSP00000237596.2:p.Gln636Lys
ENST00000237596.6:c.1906C>A ENSP00000237596.2:p.Gln636Lys
ENST00000502363.1:c.160C>A ENSP00000425289.1:p.Gln54Lys
ENST00000508588.5:c.160C>A ENSP00000427131.1:p.Gln54Lys
ENST00000511337.5:n.271+1723C>A
ENST00000512858.1:n.231+1723C>A
NM_000297.3:c.1906C>A NP_000288.1:p.Gln636Lys
XM_011532028.1:c.1681C>A XP_011530330.1:p.Gln561Lys
XM_011532029.1:c.1186C>A XP_011530331.1:p.Gln396Lys
XM_011532030.1:c.1066C>A XP_011530332.1:p.Gln356Lys
XR_244632.2:n.1993+1723C>A
NR_156488.1:n.1985+1723C>A
XM_011532028.2:c.1681C>A XP_011530330.1:p.Gln561Lys
XM_011532030.2:c.1066C>A XP_011530332.1:p.Gln356Lys
NM_000297.4:c.1906C>A MANE Select NP_000288.1:p.Gln636Lys
NR_156488.2:n.1997+1723C>A
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