Canonical Allele Identifier: CA357625019
Gene: PKD2 HGNC NCBI

Linked Data

gnomAD v4: 4-88007804-C-A
MyVariant Identifiers: chr4:g.88928956C>A (hg19) chr4:g.88007804C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007804C>A , CM000666.2:g.88007804C>A GRCh38
NC_000004.11:g.88928956C>A , CM000666.1:g.88928956C>A GRCh37
NC_000004.10:g.89147980C>A NCBI36
NG_008604.1:g.5137C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.71C>A MANE Select ENSP00000237596.2:p.Pro24Gln
ENST00000237596.6:c.71C>A ENSP00000237596.2:p.Pro24Gln
NM_000297.3:c.71C>A NP_000288.1:p.Pro24Gln
XM_011532028.1:c.71C>A XP_011530330.1:p.Pro24Gln
XR_244632.2:n.166C>A
NR_156488.1:n.158C>A
XM_011532028.2:c.71C>A XP_011530330.1:p.Pro24Gln
NM_000297.4:c.71C>A MANE Select NP_000288.1:p.Pro24Gln
NR_156488.2:n.170C>A
Search 100 bp 5'
Search 100 bp 3'