Canonical Allele Identifier: CA3003977

Gene: PKD2

Linked Data

• dbSNP Id: rs368920605
• ExAC: 4:88968067 C / A
• gnomAD v2: 4-88968067-C-A
• gnomAD v3: 4-88046915-C-A
• gnomAD v4: 4-88046915-C-A
• MyVariant Identifiers: chr4:g.88968067C>A (hg19) ; chr4:g.88046915C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046915C>A , CM000666.2:g.88046915C>A	GRCh38
NC_000004.11:g.88968067C>A , CM000666.1:g.88968067C>A	GRCh37
NC_000004.10:g.89187091C>A	NCBI36
NG_008604.1:g.44248C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1548+45C>A MANE Select	ENSP00000237596.2:n.1548+45C>A
ENST00000237596.6:c.1548+45C>A	ENSP00000237596.2:n.1548+45C>A
ENST00000508588.5:c.-199+3458C>A	ENSP00000427131.1:n.-199+3458C>A
NM_000297.3:c.1548+45C>A	NP_000288.1:n.1548+45C>A
XM_011532028.1:c.1323+45C>A	XP_011530330.1:n.1323+45C>A
XM_011532029.1:c.828+45C>A	XP_011530331.1:n.828+45C>A
XM_011532030.1:c.708+45C>A	XP_011530332.1:n.708+45C>A
XR_244632.2:n.1643+45C>A
NR_156488.1:n.1635+45C>A
XM_011532028.2:c.1323+45C>A	XP_011530330.1:n.1323+45C>A
XM_011532030.2:c.708+45C>A	XP_011530332.1:n.708+45C>A
NM_000297.4:c.1548+45C>A MANE Select	NP_000288.1:n.1548+45C>A
NR_156488.2:n.1647+45C>A