Canonical Allele Identifier: CA357626736

Gene: PKD2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88067958C>T , CM000666.2:g.88067958C>T	GRCh38
NC_000004.11:g.88989110C>T , CM000666.1:g.88989110C>T	GRCh37
NC_000004.10:g.89208134C>T	NCBI36
NG_008604.1:g.65291C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000297.4:c.2419C>T MANE Select	NP_000288.1:p.Arg807Ter
ENST00000237596.7:c.2419C>T MANE Select	ENSP00000237596.2:p.Arg807Ter
NM_000297.3:c.2419C>T	NP_000288.1:p.Arg807Ter
NR_156488.1:n.2385C>T
NR_156488.2:n.2397C>T
ENST00000237596.6:c.2419C>T	ENSP00000237596.2:p.Arg807Ter
ENST00000502363.1:c.673C>T	ENSP00000425289.1:p.Arg225Ter
ENST00000508588.5:c.673C>T	ENSP00000427131.1:p.Arg225Ter
ENST00000511337.5:n.671C>T
ENST00000512858.1:n.897C>T
XM_011532028.1:c.2194C>T	XP_011530330.1:p.Arg732Ter
XM_011532028.2:c.2194C>T	XP_011530330.1:p.Arg732Ter
XM_011532029.1:c.1699C>T	XP_011530331.1:p.Arg567Ter
XM_011532030.1:c.1579C>T	XP_011530332.1:p.Arg527Ter
XM_011532030.2:c.1579C>T	XP_011530332.1:p.Arg527Ter