Canonical Allele Identifier: CA1065137063

Gene: PKD2

Linked Data

• dbSNP Id: rs1727803373
• gnomAD v3: 4-88047110-A-G
• gnomAD v4: 4-88047110-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88047110A>G , CM000666.2:g.88047110A>G	GRCh38
NC_000004.11:g.88968262A>G , CM000666.1:g.88968262A>G	GRCh37
NC_000004.10:g.89187286A>G	NCBI36
NG_008604.1:g.44443A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1548+240A>G MANE Select	ENSP00000237596.2:n.1548+240A>G
ENST00000237596.6:c.1548+240A>G	ENSP00000237596.2:n.1548+240A>G
ENST00000508588.5:c.-199+3653A>G	ENSP00000427131.1:n.-199+3653A>G
NM_000297.3:c.1548+240A>G	NP_000288.1:n.1548+240A>G
XM_011532028.1:c.1323+240A>G	XP_011530330.1:n.1323+240A>G
XM_011532029.1:c.828+240A>G	XP_011530331.1:n.828+240A>G
XM_011532030.1:c.708+240A>G	XP_011530332.1:n.708+240A>G
XR_244632.2:n.1643+240A>G
NR_156488.1:n.1635+240A>G
XM_011532028.2:c.1323+240A>G	XP_011530330.1:n.1323+240A>G
XM_011532030.2:c.708+240A>G	XP_011530332.1:n.708+240A>G
NM_000297.4:c.1548+240A>G MANE Select	NP_000288.1:n.1548+240A>G
NR_156488.2:n.1647+240A>G