Canonical Allele Identifier: CA357618544

Gene: PKD2

Linked Data

• dbSNP Id: rs1412527660
• MyVariant Identifiers: chr4:g.88967825G>A (hg19) ; chr4:g.88046673G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046673G>A , CM000666.2:g.88046673G>A	GRCh38
NC_000004.11:g.88967825G>A , CM000666.1:g.88967825G>A	GRCh37
NC_000004.10:g.89186849G>A	NCBI36
NG_008604.1:g.44006G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000237596.7:c.1351G>A MANE Select	ENSP00000237596.2:p.Val451Met
ENST00000237596.6:c.1351G>A	ENSP00000237596.2:p.Val451Met
ENST00000508588.5:c.-199+3216G>A	ENSP00000427131.1:n.-199+3216G>A
NM_000297.3:c.1351G>A	NP_000288.1:p.Val451Met
XM_011532028.1:c.1126G>A	XP_011530330.1:p.Val376Met
XM_011532029.1:c.631G>A	XP_011530331.1:p.Val211Met
XM_011532030.1:c.511G>A	XP_011530332.1:p.Val171Met
XR_244632.2:n.1446G>A
NR_156488.1:n.1438G>A
XM_011532028.2:c.1126G>A	XP_011530330.1:p.Val376Met
XM_011532030.2:c.511G>A	XP_011530332.1:p.Val171Met
NM_000297.4:c.1351G>A MANE Select	NP_000288.1:p.Val451Met
NR_156488.2:n.1450G>A