Canonical Allele Identifier: CA357618512

Gene: PKD2

Linked Data

• ClinVar Variation Id: 1489300
• ClinVar RCV Id: RCV001980562
• dbSNP Id: rs1131408
• MyVariant Identifiers: chr4:g.88967820G>A (hg19) ; chr4:g.88046668G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046668G>A , CM000666.2:g.88046668G>A	GRCh38
NC_000004.11:g.88967820G>A , CM000666.1:g.88967820G>A	GRCh37
NC_000004.10:g.89186844G>A	NCBI36
NG_008604.1:g.44001G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1346G>A MANE Select	ENSP00000237596.2:p.Gly449Asp
ENST00000237596.6:c.1346G>A	ENSP00000237596.2:p.Gly449Asp
ENST00000508588.5:c.-199+3211G>A	ENSP00000427131.1:n.-199+3211G>A
NM_000297.3:c.1346G>A	NP_000288.1:p.Gly449Asp
XM_011532028.1:c.1121G>A	XP_011530330.1:p.Gly374Asp
XM_011532029.1:c.626G>A	XP_011530331.1:p.Gly209Asp
XM_011532030.1:c.506G>A	XP_011530332.1:p.Gly169Asp
XR_244632.2:n.1441G>A
NR_156488.1:n.1433G>A
XM_011532028.2:c.1121G>A	XP_011530330.1:p.Gly374Asp
XM_011532030.2:c.506G>A	XP_011530332.1:p.Gly169Asp
NM_000297.4:c.1346G>A MANE Select	NP_000288.1:p.Gly449Asp
NR_156488.2:n.1445G>A