Canonical Allele Identifier: CA357619372

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88967929T>A (hg19) ; chr4:g.88046777T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046777T>A , CM000666.2:g.88046777T>A	GRCh38
NC_000004.11:g.88967929T>A , CM000666.1:g.88967929T>A	GRCh37
NC_000004.10:g.89186953T>A	NCBI36
NG_008604.1:g.44110T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1455T>A MANE Select	ENSP00000237596.2:p.Phe485Leu
ENST00000237596.6:c.1455T>A	ENSP00000237596.2:p.Phe485Leu
ENST00000508588.5:c.-199+3320T>A	ENSP00000427131.1:n.-199+3320T>A
NM_000297.3:c.1455T>A	NP_000288.1:p.Phe485Leu
XM_011532028.1:c.1230T>A	XP_011530330.1:p.Phe410Leu
XM_011532029.1:c.735T>A	XP_011530331.1:p.Phe245Leu
XM_011532030.1:c.615T>A	XP_011530332.1:p.Phe205Leu
XR_244632.2:n.1550T>A
NR_156488.1:n.1542T>A
XM_011532028.2:c.1230T>A	XP_011530330.1:p.Phe410Leu
XM_011532030.2:c.615T>A	XP_011530332.1:p.Phe205Leu
NM_000297.4:c.1455T>A MANE Select	NP_000288.1:p.Phe485Leu
NR_156488.2:n.1554T>A