Canonical Allele Identifier: CA357624811
Gene: PKD2 HGNC NCBI

Linked Data

gnomAD v4: 4-88007753-T-C
MyVariant Identifiers: chr4:g.88928905T>C (hg19) chr4:g.88007753T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007753T>C , CM000666.2:g.88007753T>C GRCh38
NC_000004.11:g.88928905T>C , CM000666.1:g.88928905T>C GRCh37
NC_000004.10:g.89147929T>C NCBI36
NG_008604.1:g.5086T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.20T>C MANE Select ENSP00000237596.2:p.Val7Ala
ENST00000237596.6:c.20T>C ENSP00000237596.2:p.Val7Ala
NM_000297.3:c.20T>C NP_000288.1:p.Val7Ala
XM_011532028.1:c.20T>C XP_011530330.1:p.Val7Ala
XR_244632.2:n.115T>C
NR_156488.1:n.107T>C
XM_011532028.2:c.20T>C XP_011530330.1:p.Val7Ala
NM_000297.4:c.20T>C MANE Select NP_000288.1:p.Val7Ala
NR_156488.2:n.119T>C
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