Canonical Allele Identifier: CA357624947
Gene: PKD2 HGNC NCBI

Linked Data

dbSNP Id: rs1560591768
gnomAD v2: 4-88928938-C-A
gnomAD v4: 4-88007786-C-A
MyVariant Identifiers: chr4:g.88928938C>A (hg19) chr4:g.88928938_88928939delinsAG (hg19) chr4:g.88007786C>A (hg38) chr4:g.88007786_88007787delinsAG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007786C>A , CM000666.2:g.88007786C>A GRCh38
NC_000004.11:g.88928938C>A , CM000666.1:g.88928938C>A GRCh37
NC_000004.10:g.89147962C>A NCBI36
NG_008604.1:g.5119C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.53C>A MANE Select ENSP00000237596.2:p.Pro18Gln
ENST00000237596.6:c.53C>A ENSP00000237596.2:p.Pro18Gln
NM_000297.3:c.53C>A NP_000288.1:p.Pro18Gln
XM_011532028.1:c.53C>A XP_011530330.1:p.Pro18Gln
XR_244632.2:n.148C>A
NR_156488.1:n.140C>A
XM_011532028.2:c.53C>A XP_011530330.1:p.Pro18Gln
NM_000297.4:c.53C>A MANE Select NP_000288.1:p.Pro18Gln
NR_156488.2:n.152C>A
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