Canonical Allele Identifier: CA357619618

Gene: PKD2

Linked Data

• ClinVar Variation Id: 559506
• ClinVar RCV Id: RCV000677200 ; RCV003746552
• dbSNP Id: rs1553926080
• gnomAD v4: 4-88046814-C-T
• MyVariant Identifiers: chr4:g.88967966C>T (hg19) ; chr4:g.88046814C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046814C>T , CM000666.2:g.88046814C>T	GRCh38
NC_000004.11:g.88967966C>T , CM000666.1:g.88967966C>T	GRCh37
NC_000004.10:g.89186990C>T	NCBI36
NG_008604.1:g.44147C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1492C>T MANE Select	ENSP00000237596.2:p.His498Tyr
ENST00000237596.6:c.1492C>T	ENSP00000237596.2:p.His498Tyr
ENST00000508588.5:c.-199+3357C>T	ENSP00000427131.1:n.-199+3357C>T
NM_000297.3:c.1492C>T	NP_000288.1:p.His498Tyr
XM_011532028.1:c.1267C>T	XP_011530330.1:p.His423Tyr
XM_011532029.1:c.772C>T	XP_011530331.1:p.His258Tyr
XM_011532030.1:c.652C>T	XP_011530332.1:p.His218Tyr
XR_244632.2:n.1587C>T
NR_156488.1:n.1579C>T
XM_011532028.2:c.1267C>T	XP_011530330.1:p.His423Tyr
XM_011532030.2:c.652C>T	XP_011530332.1:p.His218Tyr
NM_000297.4:c.1492C>T MANE Select	NP_000288.1:p.His498Tyr
NR_156488.2:n.1591C>T