Canonical Allele Identifier: CA357615489

Gene: PKD2

Linked Data

• ClinVar Variation Id: 1806806
• ClinVar RCV Id: RCV002474235
• MyVariant Identifiers: chr4:g.88964430G>A (hg19) ; chr4:g.88043278G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88043278G>A , CM000666.2:g.88043278G>A	GRCh38
NC_000004.11:g.88964430G>A , CM000666.1:g.88964430G>A	GRCh37
NC_000004.10:g.89183454G>A	NCBI36
NG_008604.1:g.40611G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1140G>A MANE Select	ENSP00000237596.2:p.Trp380Ter
ENST00000237596.6:c.1140G>A	ENSP00000237596.2:p.Trp380Ter
ENST00000506367.1:n.587G>A
ENST00000508588.5:c.-378G>A	ENSP00000427131.1:n.-378G>A
NM_000297.3:c.1140G>A	NP_000288.1:p.Trp380Ter
XM_011532028.1:c.1095-3364G>A	XP_011530330.1:n.1095-3364G>A
XM_011532029.1:c.420G>A	XP_011530331.1:p.Trp140Ter
XM_011532030.1:c.300G>A	XP_011530332.1:p.Trp100Ter
XR_244632.2:n.1235G>A
NR_156488.1:n.1227G>A
XM_011532028.2:c.1095-3364G>A	XP_011530330.1:n.1095-3364G>A
XM_011532030.2:c.300G>A	XP_011530332.1:p.Trp100Ter
NM_000297.4:c.1140G>A MANE Select	NP_000288.1:p.Trp380Ter
NR_156488.2:n.1239G>A