Canonical Allele Identifier: CA357618847

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88967862T>A (hg19) ; chr4:g.88046710T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046710T>A , CM000666.2:g.88046710T>A	GRCh38
NC_000004.11:g.88967862T>A , CM000666.1:g.88967862T>A	GRCh37
NC_000004.10:g.89186886T>A	NCBI36
NG_008604.1:g.44043T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1388T>A MANE Select	ENSP00000237596.2:p.Ile463Asn
ENST00000237596.6:c.1388T>A	ENSP00000237596.2:p.Ile463Asn
ENST00000508588.5:c.-199+3253T>A	ENSP00000427131.1:n.-199+3253T>A
NM_000297.3:c.1388T>A	NP_000288.1:p.Ile463Asn
XM_011532028.1:c.1163T>A	XP_011530330.1:p.Ile388Asn
XM_011532029.1:c.668T>A	XP_011530331.1:p.Ile223Asn
XM_011532030.1:c.548T>A	XP_011530332.1:p.Ile183Asn
XR_244632.2:n.1483T>A
NR_156488.1:n.1475T>A
XM_011532028.2:c.1163T>A	XP_011530330.1:p.Ile388Asn
XM_011532030.2:c.548T>A	XP_011530332.1:p.Ile183Asn
NM_000297.4:c.1388T>A MANE Select	NP_000288.1:p.Ile463Asn
NR_156488.2:n.1487T>A