Canonical Allele Identifier: CA357622924

Gene: PKD2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88056233C>T , CM000666.2:g.88056233C>T	GRCh38
NC_000004.11:g.88977385C>T , CM000666.1:g.88977385C>T	GRCh37
NC_000004.10:g.89196409C>T	NCBI36
NG_008604.1:g.53566C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000297.4:c.1864C>T MANE Select	NP_000288.1:p.Gln622Ter
ENST00000237596.7:c.1864C>T MANE Select	ENSP00000237596.2:p.Gln622Ter
NM_000297.3:c.1864C>T	NP_000288.1:p.Gln622Ter
NR_156488.1:n.1951C>T
NR_156488.2:n.1963C>T
ENST00000237596.6:c.1864C>T	ENSP00000237596.2:p.Gln622Ter
ENST00000502363.1:c.118C>T	ENSP00000425289.1:p.Gln40Ter
ENST00000508588.5:c.118C>T	ENSP00000427131.1:p.Gln40Ter
ENST00000511337.5:n.237C>T
ENST00000512858.1:n.197C>T
XM_011532028.1:c.1639C>T	XP_011530330.1:p.Gln547Ter
XM_011532028.2:c.1639C>T	XP_011530330.1:p.Gln547Ter
XM_011532029.1:c.1144C>T	XP_011530331.1:p.Gln382Ter
XM_011532030.1:c.1024C>T	XP_011530332.1:p.Gln342Ter
XM_011532030.2:c.1024C>T	XP_011530332.1:p.Gln342Ter
XR_244632.2:n.1959C>T