Canonical Allele Identifier: CA440263287

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88967905G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046753G>A , CM000666.2:g.88046753G>A	GRCh38
NC_000004.11:g.88967905G>A , CM000666.1:g.88967905G>A	GRCh37
NC_000004.10:g.89186929G>A	NCBI36
NG_008604.1:g.44086G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1431G>A MANE Select	ENSP00000237596.2:p.Glu477=
ENST00000237596.6:c.1431G>A	ENSP00000237596.2:p.Glu477=
ENST00000508588.5:c.-199+3296G>A	ENSP00000427131.1:n.-199+3296G>A
NM_000297.3:c.1431G>A	NP_000288.1:p.Glu477=
XM_011532028.1:c.1206G>A	XP_011530330.1:p.Glu402=
XM_011532029.1:c.711G>A	XP_011530331.1:p.Glu237=
XM_011532030.1:c.591G>A	XP_011530332.1:p.Glu197=
XR_244632.2:n.1526G>A
NR_156488.1:n.1518G>A
XM_011532028.2:c.1206G>A	XP_011530330.1:p.Glu402=
XM_011532030.2:c.591G>A	XP_011530332.1:p.Glu197=
NM_000297.4:c.1431G>A MANE Select	NP_000288.1:p.Glu477=
NR_156488.2:n.1530G>A