Canonical Allele Identifier: CA357624806
Gene: PKD2 HGNC NCBI

Linked Data

dbSNP Id: rs1307960365
gnomAD v2: 4-88928902-G-T
gnomAD v4: 4-88007750-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007750G>T , CM000666.2:g.88007750G>T GRCh38
NC_000004.11:g.88928902G>T , CM000666.1:g.88928902G>T GRCh37
NC_000004.10:g.89147926G>T NCBI36
NG_008604.1:g.5083G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.17G>T MANE Select ENSP00000237596.2:p.Arg6Leu
ENST00000237596.6:c.17G>T ENSP00000237596.2:p.Arg6Leu
NM_000297.3:c.17G>T NP_000288.1:p.Arg6Leu
XM_011532028.1:c.17G>T XP_011530330.1:p.Arg6Leu
XR_244632.2:n.112G>T
NR_156488.1:n.104G>T
XM_011532028.2:c.17G>T XP_011530330.1:p.Arg6Leu
NM_000297.4:c.17G>T MANE Select NP_000288.1:p.Arg6Leu
NR_156488.2:n.116G>T