Canonical Allele Identifier: CA357624763
Gene: PKD2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007738T>G , CM000666.2:g.88007738T>G GRCh38
NC_000004.11:g.88928890T>G , CM000666.1:g.88928890T>G GRCh37
NC_000004.10:g.89147914T>G NCBI36
NG_008604.1:g.5071T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.5T>G MANE Select ENSP00000237596.2:p.Val2Gly
ENST00000237596.6:c.5T>G ENSP00000237596.2:p.Val2Gly
NM_000297.3:c.5T>G NP_000288.1:p.Val2Gly
XM_011532028.1:c.5T>G XP_011530330.1:p.Val2Gly
XR_244632.2:n.100T>G
NR_156488.1:n.92T>G
XM_011532028.2:c.5T>G XP_011530330.1:p.Val2Gly
NM_000297.4:c.5T>G MANE Select NP_000288.1:p.Val2Gly
NR_156488.2:n.104T>G