Canonical Allele Identifier: CA100872876
Gene: PKD2 HGNC NCBI

Linked Data

dbSNP Id: rs996328014
gnomAD v2: 4-88928813-G-A
gnomAD v3: 4-88007661-G-A
gnomAD v4: 4-88007661-G-A
MyVariant Identifiers: chr4:g.88928813G>A (hg19) chr4:g.88007661G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007661G>A , CM000666.2:g.88007661G>A GRCh38
NC_000004.11:g.88928813G>A , CM000666.1:g.88928813G>A GRCh37
NC_000004.10:g.89147837G>A NCBI36
NG_008604.1:g.4994G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.-73G>A MANE Select ENSP00000237596.2:n.-73G>A
NM_000297.3:c.-73G>A NP_000288.1:n.-73G>A
XM_011532028.1:c.-73G>A XP_011530330.1:n.-73G>A
XR_244632.2:n.23G>A
NR_156488.1:n.15G>A
XM_011532028.2:c.-73G>A XP_011530330.1:n.-73G>A
NM_000297.4:c.-73G>A MANE Select NP_000288.1:n.-73G>A
NR_156488.2:n.27G>A
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