Canonical Allele Identifier: CA357632835

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88959533G>T (hg19) ; chr4:g.88038381G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88038381G>T , CM000666.2:g.88038381G>T	GRCh38
NC_000004.11:g.88959533G>T , CM000666.1:g.88959533G>T	GRCh37
NC_000004.10:g.89178557G>T	NCBI36
NG_008604.1:g.35714G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000237596.7:c.974G>T MANE Select	ENSP00000237596.2:p.Arg325Leu
ENST00000237596.6:c.974G>T	ENSP00000237596.2:p.Arg325Leu
ENST00000506367.1:n.421G>T
NM_000297.3:c.974G>T	NP_000288.1:p.Arg325Leu
XM_011532028.1:c.974G>T	XP_011530330.1:p.Arg325Leu
XM_011532029.1:c.254G>T	XP_011530331.1:p.Arg85Leu
XM_011532030.1:c.134G>T	XP_011530332.1:p.Arg45Leu
XR_244632.2:n.1069G>T
NR_156488.1:n.1061G>T
XM_011532028.2:c.974G>T	XP_011530330.1:p.Arg325Leu
XM_011532030.2:c.134G>T	XP_011530332.1:p.Arg45Leu
NM_000297.4:c.974G>T MANE Select	NP_000288.1:p.Arg325Leu
NR_156488.2:n.1073G>T