Canonical Allele Identifier: CA357627227

Gene: PKD2

Linked Data

• dbSNP Id: rs1199002151
• gnomAD v4: 4-88008316-C-T
• MyVariant Identifiers: chr4:g.88929468C>T (hg19) ; chr4:g.88008316C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88008316C>T , CM000666.2:g.88008316C>T	GRCh38
NC_000004.11:g.88929468C>T , CM000666.1:g.88929468C>T	GRCh37
NC_000004.10:g.89148492C>T	NCBI36
NG_008604.1:g.5649C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.583C>T MANE Select	ENSP00000237596.2:p.Arg195Cys
ENST00000237596.6:c.583C>T	ENSP00000237596.2:p.Arg195Cys
ENST00000506727.1:n.85C>T
NM_000297.3:c.583C>T	NP_000288.1:p.Arg195Cys
XM_011532028.1:c.583C>T	XP_011530330.1:p.Arg195Cys
XR_244632.2:n.678C>T
NR_156488.1:n.670C>T
XM_011532028.2:c.583C>T	XP_011530330.1:p.Arg195Cys
NM_000297.4:c.583C>T MANE Select	NP_000288.1:p.Arg195Cys
NR_156488.2:n.682C>T