Canonical Allele Identifier: CA799592407
Gene: PKD2 HGNC NCBI

Linked Data

dbSNP Id: rs1375454555
gnomAD v3: 4-88007657-G-A
gnomAD v4: 4-88007657-G-A
MyVariant Identifiers: chr4:g.88928809G>A (hg19) chr4:g.88007657G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007657G>A , CM000666.2:g.88007657G>A GRCh38
NC_000004.11:g.88928809G>A , CM000666.1:g.88928809G>A GRCh37
NC_000004.10:g.89147833G>A NCBI36
NG_008604.1:g.4990G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.-77G>A MANE Select ENSP00000237596.2:n.-77G>A
NM_000297.3:c.-77G>A NP_000288.1:n.-77G>A
XM_011532028.1:c.-77G>A XP_011530330.1:n.-77G>A
XR_244632.2:n.19G>A
NR_156488.1:n.11G>A
XM_011532028.2:c.-77G>A XP_011530330.1:n.-77G>A
NM_000297.4:c.-77G>A MANE Select NP_000288.1:n.-77G>A
NR_156488.2:n.23G>A
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