Canonical Allele Identifier: CA357625609

Gene: PKD2

Linked Data

• dbSNP Id: rs1726230488
• MyVariant Identifiers: chr4:g.88929063C>T (hg19) ; chr4:g.88007911C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88007911C>T , CM000666.2:g.88007911C>T	GRCh38
NC_000004.11:g.88929063C>T , CM000666.1:g.88929063C>T	GRCh37
NC_000004.10:g.89148087C>T	NCBI36
NG_008604.1:g.5244C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.178C>T MANE Select	ENSP00000237596.2:p.Arg60Trp
ENST00000237596.6:c.178C>T	ENSP00000237596.2:p.Arg60Trp
NM_000297.3:c.178C>T	NP_000288.1:p.Arg60Trp
XM_011532028.1:c.178C>T	XP_011530330.1:p.Arg60Trp
XR_244632.2:n.273C>T
NR_156488.1:n.265C>T
XM_011532028.2:c.178C>T	XP_011530330.1:p.Arg60Trp
NM_000297.4:c.178C>T MANE Select	NP_000288.1:p.Arg60Trp
NR_156488.2:n.277C>T