Canonical Allele Identifier: CA552866277
Gene: PKD2 HGNC NCBI

Linked Data

dbSNP Id: rs1273266019
gnomAD v2: 4-88928865-C-A
gnomAD v4: 4-88007713-C-A
MyVariant Identifiers: chr4:g.88928865C>A (hg19) chr4:g.88007713C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007713C>A , CM000666.2:g.88007713C>A GRCh38
NC_000004.11:g.88928865C>A , CM000666.1:g.88928865C>A GRCh37
NC_000004.10:g.89147889C>A NCBI36
NG_008604.1:g.5046C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.-21C>A MANE Select ENSP00000237596.2:n.-21C>A
ENST00000237596.6:c.-21C>A ENSP00000237596.2:n.-21C>A
NM_000297.3:c.-21C>A NP_000288.1:n.-21C>A
XM_011532028.1:c.-21C>A XP_011530330.1:n.-21C>A
XR_244632.2:n.75C>A
NR_156488.1:n.67C>A
XM_011532028.2:c.-21C>A XP_011530330.1:n.-21C>A
NM_000297.4:c.-21C>A MANE Select NP_000288.1:n.-21C>A
NR_156488.2:n.79C>A
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