Canonical Allele Identifier: CA552866255
Gene: PKD2 HGNC NCBI

Linked Data

dbSNP Id: rs1182669098
gnomAD v2: 4-88928838-C-A
gnomAD v4: 4-88007686-C-A
MyVariant Identifiers: chr4:g.88928838C>A (hg19) chr4:g.88007686C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007686C>A , CM000666.2:g.88007686C>A GRCh38
NC_000004.11:g.88928838C>A , CM000666.1:g.88928838C>A GRCh37
NC_000004.10:g.89147862C>A NCBI36
NG_008604.1:g.5019C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.-48C>A MANE Select ENSP00000237596.2:n.-48C>A
ENST00000237596.6:c.-48C>A ENSP00000237596.2:n.-48C>A
NM_000297.3:c.-48C>A NP_000288.1:n.-48C>A
XM_011532028.1:c.-48C>A XP_011530330.1:n.-48C>A
XR_244632.2:n.48C>A
NR_156488.1:n.40C>A
XM_011532028.2:c.-48C>A XP_011530330.1:n.-48C>A
NM_000297.4:c.-48C>A MANE Select NP_000288.1:n.-48C>A
NR_156488.2:n.52C>A
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