Canonical Allele Identifier: CA2671365041
Gene: PKD2 HGNC NCBI

Linked Data

gnomAD v4: 4-88007663-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007663A>G , CM000666.2:g.88007663A>G GRCh38
NC_000004.11:g.88928815A>G , CM000666.1:g.88928815A>G GRCh37
NC_000004.10:g.89147839A>G NCBI36
NG_008604.1:g.4996A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.-71A>G MANE Select ENSP00000237596.2:n.-71A>G
NM_000297.3:c.-71A>G NP_000288.1:n.-71A>G
XM_011532028.1:c.-71A>G XP_011530330.1:n.-71A>G
XR_244632.2:n.25A>G
NR_156488.1:n.17A>G
XM_011532028.2:c.-71A>G XP_011530330.1:n.-71A>G
NM_000297.4:c.-71A>G MANE Select NP_000288.1:n.-71A>G
NR_156488.2:n.29A>G