Canonical Allele Identifier: CA440268330
Gene: PKD2 HGNC NCBI

Linked Data

dbSNP Id: rs1368294684
gnomAD v3: 4-88007799-C-G
gnomAD v4: 4-88007799-C-G
MyVariant Identifiers: chr4:g.88928951C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007799C>G , CM000666.2:g.88007799C>G GRCh38
NC_000004.11:g.88928951C>G , CM000666.1:g.88928951C>G GRCh37
NC_000004.10:g.89147975C>G NCBI36
NG_008604.1:g.5132C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.66C>G MANE Select ENSP00000237596.2:p.Arg22=
ENST00000237596.6:c.66C>G ENSP00000237596.2:p.Arg22=
NM_000297.3:c.66C>G NP_000288.1:p.Arg22=
XM_011532028.1:c.66C>G XP_011530330.1:p.Arg22=
XR_244632.2:n.161C>G
NR_156488.1:n.153C>G
XM_011532028.2:c.66C>G XP_011530330.1:p.Arg22=
NM_000297.4:c.66C>G MANE Select NP_000288.1:p.Arg22=
NR_156488.2:n.165C>G
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