Canonical Allele Identifier: CA357625747
Gene: PKD2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007948C>G , CM000666.2:g.88007948C>G GRCh38
NC_000004.11:g.88929100C>G , CM000666.1:g.88929100C>G GRCh37
NC_000004.10:g.89148124C>G NCBI36
NG_008604.1:g.5281C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.215C>G MANE Select ENSP00000237596.2:p.Ala72Gly
ENST00000237596.6:c.215C>G ENSP00000237596.2:p.Ala72Gly
NM_000297.3:c.215C>G NP_000288.1:p.Ala72Gly
XM_011532028.1:c.215C>G XP_011530330.1:p.Ala72Gly
XR_244632.2:n.310C>G
NR_156488.1:n.302C>G
XM_011532028.2:c.215C>G XP_011530330.1:p.Ala72Gly
NM_000297.4:c.215C>G MANE Select NP_000288.1:p.Ala72Gly
NR_156488.2:n.314C>G