Canonical Allele Identifier: CA357632844

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88959536T>A (hg19) ; chr4:g.88038384T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88038384T>A , CM000666.2:g.88038384T>A	GRCh38
NC_000004.11:g.88959536T>A , CM000666.1:g.88959536T>A	GRCh37
NC_000004.10:g.89178560T>A	NCBI36
NG_008604.1:g.35717T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000237596.7:c.977T>A MANE Select	ENSP00000237596.2:p.Val326Asp
ENST00000237596.6:c.977T>A	ENSP00000237596.2:p.Val326Asp
ENST00000506367.1:n.424T>A
NM_000297.3:c.977T>A	NP_000288.1:p.Val326Asp
XM_011532028.1:c.977T>A	XP_011530330.1:p.Val326Asp
XM_011532029.1:c.257T>A	XP_011530331.1:p.Val86Asp
XM_011532030.1:c.137T>A	XP_011530332.1:p.Val46Asp
XR_244632.2:n.1072T>A
NR_156488.1:n.1064T>A
XM_011532028.2:c.977T>A	XP_011530330.1:p.Val326Asp
XM_011532030.2:c.137T>A	XP_011530332.1:p.Val46Asp
NM_000297.4:c.977T>A MANE Select	NP_000288.1:p.Val326Asp
NR_156488.2:n.1076T>A