Canonical Allele Identifier: CA357619707

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88967981T>G (hg19) ; chr4:g.88046829T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046829T>G , CM000666.2:g.88046829T>G	GRCh38
NC_000004.11:g.88967981T>G , CM000666.1:g.88967981T>G	GRCh37
NC_000004.10:g.89187005T>G	NCBI36
NG_008604.1:g.44162T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1507T>G MANE Select	ENSP00000237596.2:p.Phe503Val
ENST00000237596.6:c.1507T>G	ENSP00000237596.2:p.Phe503Val
ENST00000508588.5:c.-199+3372T>G	ENSP00000427131.1:n.-199+3372T>G
NM_000297.3:c.1507T>G	NP_000288.1:p.Phe503Val
XM_011532028.1:c.1282T>G	XP_011530330.1:p.Phe428Val
XM_011532029.1:c.787T>G	XP_011530331.1:p.Phe263Val
XM_011532030.1:c.667T>G	XP_011530332.1:p.Phe223Val
XR_244632.2:n.1602T>G
NR_156488.1:n.1594T>G
XM_011532028.2:c.1282T>G	XP_011530330.1:p.Phe428Val
XM_011532030.2:c.667T>G	XP_011530332.1:p.Phe223Val
NM_000297.4:c.1507T>G MANE Select	NP_000288.1:p.Phe503Val
NR_156488.2:n.1606T>G