Canonical Allele Identifier: CA357619890

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88968020G>A (hg19) ; chr4:g.88046868G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046868G>A , CM000666.2:g.88046868G>A	GRCh38
NC_000004.11:g.88968020G>A , CM000666.1:g.88968020G>A	GRCh37
NC_000004.10:g.89187044G>A	NCBI36
NG_008604.1:g.44201G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1546G>A MANE Select	ENSP00000237596.2:p.Val516Met
ENST00000237596.6:c.1546G>A	ENSP00000237596.2:p.Val516Met
ENST00000508588.5:c.-199+3411G>A	ENSP00000427131.1:n.-199+3411G>A
NM_000297.3:c.1546G>A	NP_000288.1:p.Val516Met
XM_011532028.1:c.1321G>A	XP_011530330.1:p.Val441Met
XM_011532029.1:c.826G>A	XP_011530331.1:p.Val276Met
XM_011532030.1:c.706G>A	XP_011530332.1:p.Val236Met
XR_244632.2:n.1641G>A
NR_156488.1:n.1633G>A
XM_011532028.2:c.1321G>A	XP_011530330.1:p.Val441Met
XM_011532030.2:c.706G>A	XP_011530332.1:p.Val236Met
NM_000297.4:c.1546G>A MANE Select	NP_000288.1:p.Val516Met
NR_156488.2:n.1645G>A