Canonical Allele Identifier: CA357615705

Gene: PKD2

Linked Data

• COSMIC: COSM4523175
• MyVariant Identifiers: chr4:g.88964491G>A (hg19) ; chr4:g.88043339G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88043339G>A , CM000666.2:g.88043339G>A	GRCh38
NC_000004.11:g.88964491G>A , CM000666.1:g.88964491G>A	GRCh37
NC_000004.10:g.89183515G>A	NCBI36
NG_008604.1:g.40672G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1201G>A MANE Select	ENSP00000237596.2:p.Glu401Lys
ENST00000237596.6:c.1201G>A	ENSP00000237596.2:p.Glu401Lys
ENST00000506367.1:n.648G>A
ENST00000508588.5:c.-317G>A	ENSP00000427131.1:n.-317G>A
NM_000297.3:c.1201G>A	NP_000288.1:p.Glu401Lys
XM_011532028.1:c.1095-3303G>A	XP_011530330.1:n.1095-3303G>A
XM_011532029.1:c.481G>A	XP_011530331.1:p.Glu161Lys
XM_011532030.1:c.361G>A	XP_011530332.1:p.Glu121Lys
XR_244632.2:n.1296G>A
NR_156488.1:n.1288G>A
XM_011532028.2:c.1095-3303G>A	XP_011530330.1:n.1095-3303G>A
XM_011532030.2:c.361G>A	XP_011530332.1:p.Glu121Lys
NM_000297.4:c.1201G>A MANE Select	NP_000288.1:p.Glu401Lys
NR_156488.2:n.1300G>A