Canonical Allele Identifier: CA349394

Gene: PKD2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88051997G>A , CM000666.2:g.88051997G>A	GRCh38
NC_000004.11:g.88973149G>A , CM000666.1:g.88973149G>A	GRCh37
NC_000004.10:g.89192173G>A	NCBI36
NG_008604.1:g.49330G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1555G>A MANE Select	ENSP00000237596.2:p.Val519Met
ENST00000237596.6:c.1555G>A	ENSP00000237596.2:p.Val519Met
ENST00000508588.5:c.-192G>A	ENSP00000427131.1:n.-192G>A
NM_000297.3:c.1555G>A	NP_000288.1:p.Val519Met
XM_011532028.1:c.1330G>A	XP_011530330.1:p.Val444Met
XM_011532029.1:c.835G>A	XP_011530331.1:p.Val279Met
XM_011532030.1:c.715G>A	XP_011530332.1:p.Val239Met
XR_244632.2:n.1650G>A
NR_156488.1:n.1642G>A
XM_011532028.2:c.1330G>A	XP_011530330.1:p.Val444Met
XM_011532030.2:c.715G>A	XP_011530332.1:p.Val239Met
NM_000297.4:c.1555G>A MANE Select	NP_000288.1:p.Val519Met
NR_156488.2:n.1654G>A