Canonical Allele Identifier: CA357632352

Gene: PKD2

Linked Data

• ClinVar Variation Id: 930455
• ClinVar RCV Id: RCV001196127
• dbSNP Id: rs1727414003
• MyVariant Identifiers: chr4:g.88959431T>C (hg19) ; chr4:g.88038279T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88038279T>C , CM000666.2:g.88038279T>C	GRCh38
NC_000004.11:g.88959431T>C , CM000666.1:g.88959431T>C	GRCh37
NC_000004.10:g.89178455T>C	NCBI36
NG_008604.1:g.35612T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.872T>C MANE Select	ENSP00000237596.2:p.Leu291Pro
ENST00000237596.6:c.872T>C	ENSP00000237596.2:p.Leu291Pro
ENST00000506367.1:n.319T>C
ENST00000506727.1:n.458T>C
NM_000297.3:c.872T>C	NP_000288.1:p.Leu291Pro
XM_011532028.1:c.872T>C	XP_011530330.1:p.Leu291Pro
XM_011532029.1:c.152T>C	XP_011530331.1:p.Leu51Pro
XM_011532030.1:c.32T>C	XP_011530332.1:p.Leu11Pro
XR_244632.2:n.967T>C
NR_156488.1:n.959T>C
XM_011532028.2:c.872T>C	XP_011530330.1:p.Leu291Pro
XM_011532030.2:c.32T>C	XP_011530332.1:p.Leu11Pro
NM_000297.4:c.872T>C MANE Select	NP_000288.1:p.Leu291Pro
NR_156488.2:n.971T>C