Canonical Allele Identifier: CA357626951
Gene: PKD2 HGNC NCBI

Linked Data

gnomAD v4: 4-88008245-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88008245G>T , CM000666.2:g.88008245G>T GRCh38
NC_000004.11:g.88929397G>T , CM000666.1:g.88929397G>T GRCh37
NC_000004.10:g.89148421G>T NCBI36
NG_008604.1:g.5578G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.512G>T MANE Select ENSP00000237596.2:p.Gly171Val
ENST00000237596.6:c.512G>T ENSP00000237596.2:p.Gly171Val
ENST00000506727.1:n.14G>T
NM_000297.3:c.512G>T NP_000288.1:p.Gly171Val
XM_011532028.1:c.512G>T XP_011530330.1:p.Gly171Val
XR_244632.2:n.607G>T
NR_156488.1:n.599G>T
XM_011532028.2:c.512G>T XP_011530330.1:p.Gly171Val
NM_000297.4:c.512G>T MANE Select NP_000288.1:p.Gly171Val
NR_156488.2:n.611G>T