Canonical Allele Identifier: CA357624879
Gene: PKD2 HGNC NCBI

Linked Data

gnomAD v4: 4-88007770-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007770G>T , CM000666.2:g.88007770G>T GRCh38
NC_000004.11:g.88928922G>T , CM000666.1:g.88928922G>T GRCh37
NC_000004.10:g.89147946G>T NCBI36
NG_008604.1:g.5103G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.37G>T MANE Select ENSP00000237596.2:p.Gly13Trp
ENST00000237596.6:c.37G>T ENSP00000237596.2:p.Gly13Trp
NM_000297.3:c.37G>T NP_000288.1:p.Gly13Trp
XM_011532028.1:c.37G>T XP_011530330.1:p.Gly13Trp
XR_244632.2:n.132G>T
NR_156488.1:n.124G>T
XM_011532028.2:c.37G>T XP_011530330.1:p.Gly13Trp
NM_000297.4:c.37G>T MANE Select NP_000288.1:p.Gly13Trp
NR_156488.2:n.136G>T