Canonical Allele Identifier: CA357618526

Gene: PKD2

Linked Data

• dbSNP Id: rs1727783735
• COSMIC: COSM4397239
• MyVariant Identifiers: chr4:g.88967822G>A (hg19) ; chr4:g.88046670G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046670G>A , CM000666.2:g.88046670G>A	GRCh38
NC_000004.11:g.88967822G>A , CM000666.1:g.88967822G>A	GRCh37
NC_000004.10:g.89186846G>A	NCBI36
NG_008604.1:g.44003G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000237596.7:c.1348G>A MANE Select	ENSP00000237596.2:p.Gly450Ser
ENST00000237596.6:c.1348G>A	ENSP00000237596.2:p.Gly450Ser
ENST00000508588.5:c.-199+3213G>A	ENSP00000427131.1:n.-199+3213G>A
NM_000297.3:c.1348G>A	NP_000288.1:p.Gly450Ser
XM_011532028.1:c.1123G>A	XP_011530330.1:p.Gly375Ser
XM_011532029.1:c.628G>A	XP_011530331.1:p.Gly210Ser
XM_011532030.1:c.508G>A	XP_011530332.1:p.Gly170Ser
XR_244632.2:n.1443G>A
NR_156488.1:n.1435G>A
XM_011532028.2:c.1123G>A	XP_011530330.1:p.Gly375Ser
XM_011532030.2:c.508G>A	XP_011530332.1:p.Gly170Ser
NM_000297.4:c.1348G>A MANE Select	NP_000288.1:p.Gly450Ser
NR_156488.2:n.1447G>A