Canonical Allele Identifier: CA2580071873

Gene: PKD2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88065433dup , CM000666.2:g.88065433dup	GRCh38
NC_000004.11:g.88986585dup , CM000666.1:g.88986585dup	GRCh37
NC_000004.10:g.89205609dup	NCBI36
NG_008604.1:g.62766dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.2178dup MANE Select	ENSP00000237596.2:p.Glu727ArgfsTer13
ENST00000237596.6:c.2178dup	ENSP00000237596.2:p.Glu727ArgfsTer13
ENST00000502363.1:c.432dup	ENSP00000425289.1:p.Glu145ArgfsTer13
ENST00000508588.5:c.432dup	ENSP00000427131.1:p.Glu145ArgfsTer13
ENST00000511337.5:n.430dup
ENST00000512858.1:n.390dup
NM_000297.3:c.2178dup	NP_000288.1:p.Glu727ArgfsTer13
XM_011532028.1:c.1953dup	XP_011530330.1:p.Glu652ArgfsTer13
XM_011532029.1:c.1458dup	XP_011530331.1:p.Glu487ArgfsTer13
XM_011532030.1:c.1338dup	XP_011530332.1:p.Glu447ArgfsTer13
NR_156488.1:n.2144dup
XM_011532028.2:c.1953dup	XP_011530330.1:p.Glu652ArgfsTer13
XM_011532030.2:c.1338dup	XP_011530332.1:p.Glu447ArgfsTer13
NM_000297.4:c.2178dup MANE Select	NP_000288.1:p.Glu727ArgfsTer13
NR_156488.2:n.2156dup