Canonical Allele Identifier: CA357619563

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88967957A>T (hg19) ; chr4:g.88046805A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046805A>T , CM000666.2:g.88046805A>T	GRCh38
NC_000004.11:g.88967957A>T , CM000666.1:g.88967957A>T	GRCh37
NC_000004.10:g.89186981A>T	NCBI36
NG_008604.1:g.44138A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1483A>T MANE Select	ENSP00000237596.2:p.Ile495Phe
ENST00000237596.6:c.1483A>T	ENSP00000237596.2:p.Ile495Phe
ENST00000508588.5:c.-199+3348A>T	ENSP00000427131.1:n.-199+3348A>T
NM_000297.3:c.1483A>T	NP_000288.1:p.Ile495Phe
XM_011532028.1:c.1258A>T	XP_011530330.1:p.Ile420Phe
XM_011532029.1:c.763A>T	XP_011530331.1:p.Ile255Phe
XM_011532030.1:c.643A>T	XP_011530332.1:p.Ile215Phe
XR_244632.2:n.1578A>T
NR_156488.1:n.1570A>T
XM_011532028.2:c.1258A>T	XP_011530330.1:p.Ile420Phe
XM_011532030.2:c.643A>T	XP_011530332.1:p.Ile215Phe
NM_000297.4:c.1483A>T MANE Select	NP_000288.1:p.Ile495Phe
NR_156488.2:n.1582A>T