Canonical Allele Identifier: CA2695203577

Gene: PKD2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046805del , CM000666.2:g.88046805del	GRCh38
NC_000004.11:g.88967957del , CM000666.1:g.88967957del	GRCh37
NC_000004.10:g.89186981del	NCBI36
NG_008604.1:g.44138del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1483del MANE Select	ENSP00000237596.2:p.Ile495PhefsTer19
ENST00000237596.6:c.1483del	ENSP00000237596.2:p.Ile495PhefsTer19
ENST00000508588.5:c.-199+3348del	ENSP00000427131.1:n.-199+3348del
NM_000297.3:c.1483del	NP_000288.1:p.Ile495PhefsTer19
XM_011532028.1:c.1258del	XP_011530330.1:p.Ile420PhefsTer19
XM_011532029.1:c.763del	XP_011530331.1:p.Ile255PhefsTer19
XM_011532030.1:c.643del	XP_011530332.1:p.Ile215PhefsTer19
XR_244632.2:n.1578del
NR_156488.1:n.1570del
XM_011532028.2:c.1258del	XP_011530330.1:p.Ile420PhefsTer19
XM_011532030.2:c.643del	XP_011530332.1:p.Ile215PhefsTer19
NM_000297.4:c.1483del MANE Select	NP_000288.1:p.Ile495PhefsTer19
NR_156488.2:n.1582del