Canonical Allele Identifier: CA440268359
Gene: PKD2 HGNC NCBI

Linked Data

gnomAD v4: 4-88008324-G-A
MyVariant Identifiers: chr4:g.88929476G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88008324G>A , CM000666.2:g.88008324G>A GRCh38
NC_000004.11:g.88929476G>A , CM000666.1:g.88929476G>A GRCh37
NC_000004.10:g.89148500G>A NCBI36
NG_008604.1:g.5657G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.591G>A MANE Select ENSP00000237596.2:p.Leu197=
ENST00000237596.6:c.591G>A ENSP00000237596.2:p.Leu197=
ENST00000506727.1:n.93G>A
NM_000297.3:c.591G>A NP_000288.1:p.Leu197=
XM_011532028.1:c.591G>A XP_011530330.1:p.Leu197=
XR_244632.2:n.686G>A
NR_156488.1:n.678G>A
XM_011532028.2:c.591G>A XP_011530330.1:p.Leu197=
NM_000297.4:c.591G>A MANE Select NP_000288.1:p.Leu197=
NR_156488.2:n.690G>A
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