Canonical Allele Identifier: CA357619398

Gene: PKD2

Linked Data

• ClinVar Variation Id: 431056
• ClinVar RCV Id: RCV000496095
• dbSNP Id: rs1135401753
• MyVariant Identifiers: chr4:g.88967932C>G (hg19) ; chr4:g.88046780C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046780C>G , CM000666.2:g.88046780C>G	GRCh38
NC_000004.11:g.88967932C>G , CM000666.1:g.88967932C>G	GRCh37
NC_000004.10:g.89186956C>G	NCBI36
NG_008604.1:g.44113C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1458C>G MANE Select	ENSP00000237596.2:p.Tyr486Ter
ENST00000237596.6:c.1458C>G	ENSP00000237596.2:p.Tyr486Ter
ENST00000508588.5:c.-199+3323C>G	ENSP00000427131.1:n.-199+3323C>G
NM_000297.3:c.1458C>G	NP_000288.1:p.Tyr486Ter
XM_011532028.1:c.1233C>G	XP_011530330.1:p.Tyr411Ter
XM_011532029.1:c.738C>G	XP_011530331.1:p.Tyr246Ter
XM_011532030.1:c.618C>G	XP_011530332.1:p.Tyr206Ter
XR_244632.2:n.1553C>G
NR_156488.1:n.1545C>G
XM_011532028.2:c.1233C>G	XP_011530330.1:p.Tyr411Ter
XM_011532030.2:c.618C>G	XP_011530332.1:p.Tyr206Ter
NM_000297.4:c.1458C>G MANE Select	NP_000288.1:p.Tyr486Ter
NR_156488.2:n.1557C>G