Canonical Allele Identifier: CA357624894
Gene: PKD2 HGNC NCBI

Linked Data

dbSNP Id: rs1166035431
gnomAD v3: 4-88007773-G-T
gnomAD v4: 4-88007773-G-T
MyVariant Identifiers: chr4:g.88928925G>T (hg19) chr4:g.88007773G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007773G>T , CM000666.2:g.88007773G>T GRCh38
NC_000004.11:g.88928925G>T , CM000666.1:g.88928925G>T GRCh37
NC_000004.10:g.89147949G>T NCBI36
NG_008604.1:g.5106G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.40G>T MANE Select ENSP00000237596.2:p.Asp14Tyr
ENST00000237596.6:c.40G>T ENSP00000237596.2:p.Asp14Tyr
NM_000297.3:c.40G>T NP_000288.1:p.Asp14Tyr
XM_011532028.1:c.40G>T XP_011530330.1:p.Asp14Tyr
XR_244632.2:n.135G>T
NR_156488.1:n.127G>T
XM_011532028.2:c.40G>T XP_011530330.1:p.Asp14Tyr
NM_000297.4:c.40G>T MANE Select NP_000288.1:p.Asp14Tyr
NR_156488.2:n.139G>T
Search 100 bp 5'
Search 100 bp 3'