Canonical Allele Identifier: CA1474579750

Gene: PKD2

Linked Data

• dbSNP Id: rs1727803183

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88047099_88047100del , CM000666.2:g.88047099_88047100del	GRCh38
NC_000004.11:g.88968251_88968252del , CM000666.1:g.88968251_88968252del	GRCh37
NC_000004.10:g.89187275_89187276del	NCBI36
NG_008604.1:g.44432_44433del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1548+229_1548+230del MANE Select	ENSP00000237596.2:n.1548+229_1548+230del
ENST00000237596.6:c.1548+229_1548+230del	ENSP00000237596.2:n.1548+229_1548+230del
ENST00000508588.5:c.-199+3642_-199+3643del	ENSP00000427131.1:n.-199+3642_-199+3643del
NM_000297.3:c.1548+229_1548+230del	NP_000288.1:n.1548+229_1548+230del
XM_011532028.1:c.1323+229_1323+230del	XP_011530330.1:n.1323+229_1323+230del
XM_011532029.1:c.828+229_828+230del	XP_011530331.1:n.828+229_828+230del
XM_011532030.1:c.708+229_708+230del	XP_011530332.1:n.708+229_708+230del
XR_244632.2:n.1643+229_1643+230del
NR_156488.1:n.1635+229_1635+230del
XM_011532028.2:c.1323+229_1323+230del	XP_011530330.1:n.1323+229_1323+230del
XM_011532030.2:c.708+229_708+230del	XP_011530332.1:n.708+229_708+230del
NM_000297.4:c.1548+229_1548+230del MANE Select	NP_000288.1:n.1548+229_1548+230del
NR_156488.2:n.1647+229_1647+230del