Canonical Allele Identifier: CA357618869

Gene: PKD2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046712C>G , CM000666.2:g.88046712C>G	GRCh38
NC_000004.11:g.88967864C>G , CM000666.1:g.88967864C>G	GRCh37
NC_000004.10:g.89186888C>G	NCBI36
NG_008604.1:g.44045C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1390C>G MANE Select	ENSP00000237596.2:p.Arg464Gly
ENST00000237596.6:c.1390C>G	ENSP00000237596.2:p.Arg464Gly
ENST00000508588.5:c.-199+3255C>G	ENSP00000427131.1:n.-199+3255C>G
NM_000297.3:c.1390C>G	NP_000288.1:p.Arg464Gly
XM_011532028.1:c.1165C>G	XP_011530330.1:p.Arg389Gly
XM_011532029.1:c.670C>G	XP_011530331.1:p.Arg224Gly
XM_011532030.1:c.550C>G	XP_011530332.1:p.Arg184Gly
XR_244632.2:n.1485C>G
NR_156488.1:n.1477C>G
XM_011532028.2:c.1165C>G	XP_011530330.1:p.Arg389Gly
XM_011532030.2:c.550C>G	XP_011530332.1:p.Arg184Gly
NM_000297.4:c.1390C>G MANE Select	NP_000288.1:p.Arg464Gly
NR_156488.2:n.1489C>G