Canonical Allele Identifier: CA357632839

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88959535G>A (hg19) ; chr4:g.88038383G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88038383G>A , CM000666.2:g.88038383G>A	GRCh38
NC_000004.11:g.88959535G>A , CM000666.1:g.88959535G>A	GRCh37
NC_000004.10:g.89178559G>A	NCBI36
NG_008604.1:g.35716G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000237596.7:c.976G>A MANE Select	ENSP00000237596.2:p.Val326Ile
ENST00000237596.6:c.976G>A	ENSP00000237596.2:p.Val326Ile
ENST00000506367.1:n.423G>A
NM_000297.3:c.976G>A	NP_000288.1:p.Val326Ile
XM_011532028.1:c.976G>A	XP_011530330.1:p.Val326Ile
XM_011532029.1:c.256G>A	XP_011530331.1:p.Val86Ile
XM_011532030.1:c.136G>A	XP_011530332.1:p.Val46Ile
XR_244632.2:n.1071G>A
NR_156488.1:n.1063G>A
XM_011532028.2:c.976G>A	XP_011530330.1:p.Val326Ile
XM_011532030.2:c.136G>A	XP_011530332.1:p.Val46Ile
NM_000297.4:c.976G>A MANE Select	NP_000288.1:p.Val326Ile
NR_156488.2:n.1075G>A