Canonical Allele Identifier: CA2739270160
Gene: PKD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2822571
ClinVar RCV Id: RCV003747135
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007798_88007799delinsTT , CM000666.2:g.88007798_88007799delinsTT GRCh38
NC_000004.11:g.88928950_88928951delinsTT , CM000666.1:g.88928950_88928951delinsTT GRCh37
NC_000004.10:g.89147974_89147975delinsTT NCBI36
NG_008604.1:g.5131_5132delinsTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.65_66delinsTT MANE Select ENSP00000237596.2:p.Arg22Leu
ENST00000237596.6:c.65_66delinsTT ENSP00000237596.2:p.Arg22Leu
NM_000297.3:c.65_66delinsTT NP_000288.1:p.Arg22Leu
XM_011532028.1:c.65_66delinsTT XP_011530330.1:p.Arg22Leu
XR_244632.2:n.160_161delinsTT
NR_156488.1:n.152_153delinsTT
XM_011532028.2:c.65_66delinsTT XP_011530330.1:p.Arg22Leu
NM_000297.4:c.65_66delinsTT MANE Select NP_000288.1:p.Arg22Leu
NR_156488.2:n.164_165delinsTT
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