Canonical Allele Identifier: CA917247597

Gene: PKD2

Linked Data

• dbSNP Id: rs1578136123

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046922_88046923insAGAAA , CM000666.2:g.88046922_88046923insAGAAA	GRCh38
NC_000004.11:g.88968074_88968075insAGAAA , CM000666.1:g.88968074_88968075insAGAAA	GRCh37
NC_000004.10:g.89187098_89187099insAGAAA	NCBI36
NG_008604.1:g.44255_44256insAGAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1548+52_1548+53insAGAAA MANE Select	ENSP00000237596.2:n.1548+52_1548+53insAGAAA
ENST00000237596.6:c.1548+52_1548+53insAGAAA	ENSP00000237596.2:n.1548+52_1548+53insAGAAA
ENST00000508588.5:c.-199+3465_-199+3466insAGAAA	ENSP00000427131.1:n.-199+3465_-199+3466insAGAAA
NM_000297.3:c.1548+52_1548+53insAGAAA	NP_000288.1:n.1548+52_1548+53insAGAAA
XM_011532028.1:c.1323+52_1323+53insAGAAA	XP_011530330.1:n.1323+52_1323+53insAGAAA
XM_011532029.1:c.828+52_828+53insAGAAA	XP_011530331.1:n.828+52_828+53insAGAAA
XM_011532030.1:c.708+52_708+53insAGAAA	XP_011530332.1:n.708+52_708+53insAGAAA
XR_244632.2:n.1643+52_1643+53insAGAAA
NR_156488.1:n.1635+52_1635+53insAGAAA
XM_011532028.2:c.1323+52_1323+53insAGAAA	XP_011530330.1:n.1323+52_1323+53insAGAAA
XM_011532030.2:c.708+52_708+53insAGAAA	XP_011530332.1:n.708+52_708+53insAGAAA
NM_000297.4:c.1548+52_1548+53insAGAAA MANE Select	NP_000288.1:n.1548+52_1548+53insAGAAA
NR_156488.2:n.1647+52_1647+53insAGAAA