Canonical Allele Identifier: CA357632841

Gene: PKD2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000237596.7:c.976G>T MANE Select	ENSP00000237596.2:p.Val326Phe
ENST00000237596.6:c.976G>T	ENSP00000237596.2:p.Val326Phe
ENST00000506367.1:n.423G>T
NM_000297.3:c.976G>T	NP_000288.1:p.Val326Phe
XM_011532028.1:c.976G>T	XP_011530330.1:p.Val326Phe
XM_011532029.1:c.256G>T	XP_011530331.1:p.Val86Phe
XM_011532030.1:c.136G>T	XP_011530332.1:p.Val46Phe
XR_244632.2:n.1071G>T
NR_156488.1:n.1063G>T
XM_011532028.2:c.976G>T	XP_011530330.1:p.Val326Phe
XM_011532030.2:c.136G>T	XP_011530332.1:p.Val46Phe
NM_000297.4:c.976G>T MANE Select	NP_000288.1:p.Val326Phe
NR_156488.2:n.1075G>T