Canonical Allele Identifier: CA2671365132
Gene: PKD2 HGNC NCBI

Linked Data

gnomAD v4: 4-88007711-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007711C>T , CM000666.2:g.88007711C>T GRCh38
NC_000004.11:g.88928863C>T , CM000666.1:g.88928863C>T GRCh37
NC_000004.10:g.89147887C>T NCBI36
NG_008604.1:g.5044C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.-23C>T MANE Select ENSP00000237596.2:n.-23C>T
ENST00000237596.6:c.-23C>T ENSP00000237596.2:n.-23C>T
NM_000297.3:c.-23C>T NP_000288.1:n.-23C>T
XM_011532028.1:c.-23C>T XP_011530330.1:n.-23C>T
XR_244632.2:n.73C>T
NR_156488.1:n.65C>T
XM_011532028.2:c.-23C>T XP_011530330.1:n.-23C>T
NM_000297.4:c.-23C>T MANE Select NP_000288.1:n.-23C>T
NR_156488.2:n.77C>T