Canonical Allele Identifier: CA357632372

Gene: PKD2

Linked Data

• ClinVar Variation Id: 997284
• ClinVar RCV Id: RCV001292316
• dbSNP Id: rs1560608538
• MyVariant Identifiers: chr4:g.88959434A>C (hg19) ; chr4:g.88038282A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88038282A>C , CM000666.2:g.88038282A>C	GRCh38
NC_000004.11:g.88959434A>C , CM000666.1:g.88959434A>C	GRCh37
NC_000004.10:g.89178458A>C	NCBI36
NG_008604.1:g.35615A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000237596.7:c.875A>C MANE Select	ENSP00000237596.2:p.Tyr292Ser
ENST00000237596.6:c.875A>C	ENSP00000237596.2:p.Tyr292Ser
ENST00000506367.1:n.322A>C
ENST00000506727.1:n.461A>C
NM_000297.3:c.875A>C	NP_000288.1:p.Tyr292Ser
XM_011532028.1:c.875A>C	XP_011530330.1:p.Tyr292Ser
XM_011532029.1:c.155A>C	XP_011530331.1:p.Tyr52Ser
XM_011532030.1:c.35A>C	XP_011530332.1:p.Tyr12Ser
XR_244632.2:n.970A>C
NR_156488.1:n.962A>C
XM_011532028.2:c.875A>C	XP_011530330.1:p.Tyr292Ser
XM_011532030.2:c.35A>C	XP_011530332.1:p.Tyr12Ser
NM_000297.4:c.875A>C MANE Select	NP_000288.1:p.Tyr292Ser
NR_156488.2:n.974A>C