Canonical Allele Identifier: CA357619392

Gene: PKD2

Linked Data

• COSMIC: COSM1495887
• MyVariant Identifiers: chr4:g.88967931A>T (hg19) ; chr4:g.88046779A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046779A>T , CM000666.2:g.88046779A>T	GRCh38
NC_000004.11:g.88967931A>T , CM000666.1:g.88967931A>T	GRCh37
NC_000004.10:g.89186955A>T	NCBI36
NG_008604.1:g.44112A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1457A>T MANE Select	ENSP00000237596.2:p.Tyr486Phe
ENST00000237596.6:c.1457A>T	ENSP00000237596.2:p.Tyr486Phe
ENST00000508588.5:c.-199+3322A>T	ENSP00000427131.1:n.-199+3322A>T
NM_000297.3:c.1457A>T	NP_000288.1:p.Tyr486Phe
XM_011532028.1:c.1232A>T	XP_011530330.1:p.Tyr411Phe
XM_011532029.1:c.737A>T	XP_011530331.1:p.Tyr246Phe
XM_011532030.1:c.617A>T	XP_011530332.1:p.Tyr206Phe
XR_244632.2:n.1552A>T
NR_156488.1:n.1544A>T
XM_011532028.2:c.1232A>T	XP_011530330.1:p.Tyr411Phe
XM_011532030.2:c.617A>T	XP_011530332.1:p.Tyr206Phe
NM_000297.4:c.1457A>T MANE Select	NP_000288.1:p.Tyr486Phe
NR_156488.2:n.1556A>T