Canonical Allele Identifier: CA357615824

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88964515C>A (hg19) ; chr4:g.88043363C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88043363C>A , CM000666.2:g.88043363C>A	GRCh38
NC_000004.11:g.88964515C>A , CM000666.1:g.88964515C>A	GRCh37
NC_000004.10:g.89183539C>A	NCBI36
NG_008604.1:g.40696C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000237596.7:c.1225C>A MANE Select	ENSP00000237596.2:p.Leu409Ile
ENST00000237596.6:c.1225C>A	ENSP00000237596.2:p.Leu409Ile
ENST00000506367.1:n.672C>A
ENST00000508588.5:c.-293C>A	ENSP00000427131.1:n.-293C>A
NM_000297.3:c.1225C>A	NP_000288.1:p.Leu409Ile
XM_011532028.1:c.1095-3279C>A	XP_011530330.1:n.1095-3279C>A
XM_011532029.1:c.505C>A	XP_011530331.1:p.Leu169Ile
XM_011532030.1:c.385C>A	XP_011530332.1:p.Leu129Ile
XR_244632.2:n.1320C>A
NR_156488.1:n.1312C>A
XM_011532028.2:c.1095-3279C>A	XP_011530330.1:n.1095-3279C>A
XM_011532030.2:c.385C>A	XP_011530332.1:p.Leu129Ile
NM_000297.4:c.1225C>A MANE Select	NP_000288.1:p.Leu409Ile
NR_156488.2:n.1324C>A