Canonical Allele Identifier: CA357627073
Gene: PKD2 HGNC NCBI

Linked Data

gnomAD v4: 4-88008275-A-G
MyVariant Identifiers: chr4:g.88929427A>G (hg19) chr4:g.88008275A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88008275A>G , CM000666.2:g.88008275A>G GRCh38
NC_000004.11:g.88929427A>G , CM000666.1:g.88929427A>G GRCh37
NC_000004.10:g.89148451A>G NCBI36
NG_008604.1:g.5608A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.542A>G MANE Select ENSP00000237596.2:p.Glu181Gly
ENST00000237596.6:c.542A>G ENSP00000237596.2:p.Glu181Gly
ENST00000506727.1:n.44A>G
NM_000297.3:c.542A>G NP_000288.1:p.Glu181Gly
XM_011532028.1:c.542A>G XP_011530330.1:p.Glu181Gly
XR_244632.2:n.637A>G
NR_156488.1:n.629A>G
XM_011532028.2:c.542A>G XP_011530330.1:p.Glu181Gly
NM_000297.4:c.542A>G MANE Select NP_000288.1:p.Glu181Gly
NR_156488.2:n.641A>G
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