Canonical Allele Identifier: CA357632859

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88959539G>T (hg19) ; chr4:g.88038387G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88038387G>T , CM000666.2:g.88038387G>T	GRCh38
NC_000004.11:g.88959539G>T , CM000666.1:g.88959539G>T	GRCh37
NC_000004.10:g.89178563G>T	NCBI36
NG_008604.1:g.35720G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000237596.7:c.980G>T MANE Select	ENSP00000237596.2:p.Arg327Ile
ENST00000237596.6:c.980G>T	ENSP00000237596.2:p.Arg327Ile
ENST00000506367.1:n.427G>T
NM_000297.3:c.980G>T	NP_000288.1:p.Arg327Ile
XM_011532028.1:c.980G>T	XP_011530330.1:p.Arg327Ile
XM_011532029.1:c.260G>T	XP_011530331.1:p.Arg87Ile
XM_011532030.1:c.140G>T	XP_011530332.1:p.Arg47Ile
XR_244632.2:n.1075G>T
NR_156488.1:n.1067G>T
XM_011532028.2:c.980G>T	XP_011530330.1:p.Arg327Ile
XM_011532030.2:c.140G>T	XP_011530332.1:p.Arg47Ile
NM_000297.4:c.980G>T MANE Select	NP_000288.1:p.Arg327Ile
NR_156488.2:n.1079G>T