Canonical Allele Identifier: CA357619835

Gene: PKD2

Linked Data

• dbSNP Id: rs1727793339
• MyVariant Identifiers: chr4:g.88968005G>A (hg19) ; chr4:g.88046853G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046853G>A , CM000666.2:g.88046853G>A	GRCh38
NC_000004.11:g.88968005G>A , CM000666.1:g.88968005G>A	GRCh37
NC_000004.10:g.89187029G>A	NCBI36
NG_008604.1:g.44186G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1531G>A MANE Select	ENSP00000237596.2:p.Asp511Asn
ENST00000237596.6:c.1531G>A	ENSP00000237596.2:p.Asp511Asn
ENST00000508588.5:c.-199+3396G>A	ENSP00000427131.1:n.-199+3396G>A
NM_000297.3:c.1531G>A	NP_000288.1:p.Asp511Asn
XM_011532028.1:c.1306G>A	XP_011530330.1:p.Asp436Asn
XM_011532029.1:c.811G>A	XP_011530331.1:p.Asp271Asn
XM_011532030.1:c.691G>A	XP_011530332.1:p.Asp231Asn
XR_244632.2:n.1626G>A
NR_156488.1:n.1618G>A
XM_011532028.2:c.1306G>A	XP_011530330.1:p.Asp436Asn
XM_011532030.2:c.691G>A	XP_011530332.1:p.Asp231Asn
NM_000297.4:c.1531G>A MANE Select	NP_000288.1:p.Asp511Asn
NR_156488.2:n.1630G>A