Canonical Allele Identifier: CA357624746
Gene: PKD2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007735T>G , CM000666.2:g.88007735T>G GRCh38
NC_000004.11:g.88928887T>G , CM000666.1:g.88928887T>G GRCh37
NC_000004.10:g.89147911T>G NCBI36
NG_008604.1:g.5068T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.2T>G MANE Select ENSP00000237596.2:p.Met1Arg
ENST00000237596.6:c.2T>G ENSP00000237596.2:p.Met1Arg
NM_000297.3:c.2T>G NP_000288.1:p.Met1Arg
XM_011532028.1:c.2T>G XP_011530330.1:p.Met1Arg
XR_244632.2:n.97T>G
NR_156488.1:n.89T>G
XM_011532028.2:c.2T>G XP_011530330.1:p.Met1Arg
NM_000297.4:c.2T>G MANE Select NP_000288.1:p.Met1Arg
NR_156488.2:n.101T>G