Canonical Allele Identifier: CA3004243

Gene: PKD2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88067946C>G , CM000666.2:g.88067946C>G	GRCh38
NC_000004.11:g.88989098C>G , CM000666.1:g.88989098C>G	GRCh37
NC_000004.10:g.89208122C>G	NCBI36
NG_008604.1:g.65279C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.2407C>G MANE Select	ENSP00000237596.2:p.Arg803Gly
ENST00000237596.6:c.2407C>G	ENSP00000237596.2:p.Arg803Gly
ENST00000502363.1:c.661C>G	ENSP00000425289.1:p.Arg221Gly
ENST00000508588.5:c.661C>G	ENSP00000427131.1:p.Arg221Gly
ENST00000511337.5:n.659C>G
ENST00000512858.1:n.885C>G
NM_000297.3:c.2407C>G	NP_000288.1:p.Arg803Gly
XM_011532028.1:c.2182C>G	XP_011530330.1:p.Arg728Gly
XM_011532029.1:c.1687C>G	XP_011530331.1:p.Arg563Gly
XM_011532030.1:c.1567C>G	XP_011530332.1:p.Arg523Gly
NR_156488.1:n.2373C>G
XM_011532028.2:c.2182C>G	XP_011530330.1:p.Arg728Gly
XM_011532030.2:c.1567C>G	XP_011530332.1:p.Arg523Gly
NM_000297.4:c.2407C>G MANE Select	NP_000288.1:p.Arg803Gly
NR_156488.2:n.2385C>G