Canonical Allele Identifier: CA357615812

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88964512A>T (hg19) ; chr4:g.88043360A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88043360A>T , CM000666.2:g.88043360A>T	GRCh38
NC_000004.11:g.88964512A>T , CM000666.1:g.88964512A>T	GRCh37
NC_000004.10:g.89183536A>T	NCBI36
NG_008604.1:g.40693A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000237596.7:c.1222A>T MANE Select	ENSP00000237596.2:p.Ser408Cys
ENST00000237596.6:c.1222A>T	ENSP00000237596.2:p.Ser408Cys
ENST00000506367.1:n.669A>T
ENST00000508588.5:c.-296A>T	ENSP00000427131.1:n.-296A>T
NM_000297.3:c.1222A>T	NP_000288.1:p.Ser408Cys
XM_011532028.1:c.1095-3282A>T	XP_011530330.1:n.1095-3282A>T
XM_011532029.1:c.502A>T	XP_011530331.1:p.Ser168Cys
XM_011532030.1:c.382A>T	XP_011530332.1:p.Ser128Cys
XR_244632.2:n.1317A>T
NR_156488.1:n.1309A>T
XM_011532028.2:c.1095-3282A>T	XP_011530330.1:n.1095-3282A>T
XM_011532030.2:c.382A>T	XP_011530332.1:p.Ser128Cys
NM_000297.4:c.1222A>T MANE Select	NP_000288.1:p.Ser408Cys
NR_156488.2:n.1321A>T