Canonical Allele Identifier: CA357625589
Gene: PKD2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007906G>T , CM000666.2:g.88007906G>T GRCh38
NC_000004.11:g.88929058G>T , CM000666.1:g.88929058G>T GRCh37
NC_000004.10:g.89148082G>T NCBI36
NG_008604.1:g.5239G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.173G>T MANE Select ENSP00000237596.2:p.Arg58Leu
ENST00000237596.6:c.173G>T ENSP00000237596.2:p.Arg58Leu
NM_000297.3:c.173G>T NP_000288.1:p.Arg58Leu
XM_011532028.1:c.173G>T XP_011530330.1:p.Arg58Leu
XR_244632.2:n.268G>T
NR_156488.1:n.260G>T
XM_011532028.2:c.173G>T XP_011530330.1:p.Arg58Leu
NM_000297.4:c.173G>T MANE Select NP_000288.1:p.Arg58Leu
NR_156488.2:n.272G>T