Canonical Allele Identifier: CA357619389

Gene: PKD2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1457A>G MANE Select	ENSP00000237596.2:p.Tyr486Cys
ENST00000237596.6:c.1457A>G	ENSP00000237596.2:p.Tyr486Cys
ENST00000508588.5:c.-199+3322A>G	ENSP00000427131.1:n.-199+3322A>G
NM_000297.3:c.1457A>G	NP_000288.1:p.Tyr486Cys
XM_011532028.1:c.1232A>G	XP_011530330.1:p.Tyr411Cys
XM_011532029.1:c.737A>G	XP_011530331.1:p.Tyr246Cys
XM_011532030.1:c.617A>G	XP_011530332.1:p.Tyr206Cys
XR_244632.2:n.1552A>G
NR_156488.1:n.1544A>G
XM_011532028.2:c.1232A>G	XP_011530330.1:p.Tyr411Cys
XM_011532030.2:c.617A>G	XP_011530332.1:p.Tyr206Cys
NM_000297.4:c.1457A>G MANE Select	NP_000288.1:p.Tyr486Cys
NR_156488.2:n.1556A>G