Canonical Allele Identifier: CA440263311

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88967947G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046795G>A , CM000666.2:g.88046795G>A	GRCh38
NC_000004.11:g.88967947G>A , CM000666.1:g.88967947G>A	GRCh37
NC_000004.10:g.89186971G>A	NCBI36
NG_008604.1:g.44128G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1473G>A MANE Select	ENSP00000237596.2:p.Glu491=
ENST00000237596.6:c.1473G>A	ENSP00000237596.2:p.Glu491=
ENST00000508588.5:c.-199+3338G>A	ENSP00000427131.1:n.-199+3338G>A
NM_000297.3:c.1473G>A	NP_000288.1:p.Glu491=
XM_011532028.1:c.1248G>A	XP_011530330.1:p.Glu416=
XM_011532029.1:c.753G>A	XP_011530331.1:p.Glu251=
XM_011532030.1:c.633G>A	XP_011530332.1:p.Glu211=
XR_244632.2:n.1568G>A
NR_156488.1:n.1560G>A
XM_011532028.2:c.1248G>A	XP_011530330.1:p.Glu416=
XM_011532030.2:c.633G>A	XP_011530332.1:p.Glu211=
NM_000297.4:c.1473G>A MANE Select	NP_000288.1:p.Glu491=
NR_156488.2:n.1572G>A