Canonical Allele Identifier: CA357624812
Gene: PKD2 HGNC NCBI

Linked Data

gnomAD v4: 4-88007753-T-G
MyVariant Identifiers: chr4:g.88928905T>G (hg19) chr4:g.88007753T>G (hg38)
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.20T>G MANE Select ENSP00000237596.2:p.Val7Gly
ENST00000237596.6:c.20T>G ENSP00000237596.2:p.Val7Gly
NM_000297.3:c.20T>G NP_000288.1:p.Val7Gly
XM_011532028.1:c.20T>G XP_011530330.1:p.Val7Gly
XR_244632.2:n.115T>G
NR_156488.1:n.107T>G
XM_011532028.2:c.20T>G XP_011530330.1:p.Val7Gly
NM_000297.4:c.20T>G MANE Select NP_000288.1:p.Val7Gly
NR_156488.2:n.119T>G
Search 100 bp 5'
Search 100 bp 3'