Canonical Allele Identifier: CA357625174
Gene: PKD2 HGNC NCBI

Linked Data

gnomAD v4: 4-88007834-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007834C>T , CM000666.2:g.88007834C>T GRCh38
NC_000004.11:g.88928986C>T , CM000666.1:g.88928986C>T GRCh37
NC_000004.10:g.89148010C>T NCBI36
NG_008604.1:g.5167C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.101C>T MANE Select ENSP00000237596.2:p.Ala34Val
ENST00000237596.6:c.101C>T ENSP00000237596.2:p.Ala34Val
NM_000297.3:c.101C>T NP_000288.1:p.Ala34Val
XM_011532028.1:c.101C>T XP_011530330.1:p.Ala34Val
XR_244632.2:n.196C>T
NR_156488.1:n.188C>T
XM_011532028.2:c.101C>T XP_011530330.1:p.Ala34Val
NM_000297.4:c.101C>T MANE Select NP_000288.1:p.Ala34Val
NR_156488.2:n.200C>T