Canonical Allele Identifier: CA917247596

Gene: PKD2

Linked Data

• dbSNP Id: rs1578136119

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046919_88046920insAAAAGA , CM000666.2:g.88046919_88046920insAAAAGA	GRCh38
NC_000004.11:g.88968071_88968072insAAAAGA , CM000666.1:g.88968071_88968072insAAAAGA	GRCh37
NC_000004.10:g.89187095_89187096insAAAAGA	NCBI36
NG_008604.1:g.44252_44253insAAAAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1548+49_1548+50insAAAAGA MANE Select	ENSP00000237596.2:n.1548+49_1548+50insAAAAGA
ENST00000237596.6:c.1548+49_1548+50insAAAAGA	ENSP00000237596.2:n.1548+49_1548+50insAAAAGA
ENST00000508588.5:c.-199+3462_-199+3463insAAAAGA	ENSP00000427131.1:n.-199+3462_-199+3463insAAAAGA
NM_000297.3:c.1548+49_1548+50insAAAAGA	NP_000288.1:n.1548+49_1548+50insAAAAGA
XM_011532028.1:c.1323+49_1323+50insAAAAGA	XP_011530330.1:n.1323+49_1323+50insAAAAGA
XM_011532029.1:c.828+49_828+50insAAAAGA	XP_011530331.1:n.828+49_828+50insAAAAGA
XM_011532030.1:c.708+49_708+50insAAAAGA	XP_011530332.1:n.708+49_708+50insAAAAGA
XR_244632.2:n.1643+49_1643+50insAAAAGA
NR_156488.1:n.1635+49_1635+50insAAAAGA
XM_011532028.2:c.1323+49_1323+50insAAAAGA	XP_011530330.1:n.1323+49_1323+50insAAAAGA
XM_011532030.2:c.708+49_708+50insAAAAGA	XP_011530332.1:n.708+49_708+50insAAAAGA
NM_000297.4:c.1548+49_1548+50insAAAAGA MANE Select	NP_000288.1:n.1548+49_1548+50insAAAAGA
NR_156488.2:n.1647+49_1647+50insAAAAGA