Canonical Allele Identifier: CA440263317

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88967953G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046801G>A , CM000666.2:g.88046801G>A	GRCh38
NC_000004.11:g.88967953G>A , CM000666.1:g.88967953G>A	GRCh37
NC_000004.10:g.89186977G>A	NCBI36
NG_008604.1:g.44134G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1479G>A MANE Select	ENSP00000237596.2:p.Leu493=
ENST00000237596.6:c.1479G>A	ENSP00000237596.2:p.Leu493=
ENST00000508588.5:c.-199+3344G>A	ENSP00000427131.1:n.-199+3344G>A
NM_000297.3:c.1479G>A	NP_000288.1:p.Leu493=
XM_011532028.1:c.1254G>A	XP_011530330.1:p.Leu418=
XM_011532029.1:c.759G>A	XP_011530331.1:p.Leu253=
XM_011532030.1:c.639G>A	XP_011530332.1:p.Leu213=
XR_244632.2:n.1574G>A
NR_156488.1:n.1566G>A
XM_011532028.2:c.1254G>A	XP_011530330.1:p.Leu418=
XM_011532030.2:c.639G>A	XP_011530332.1:p.Leu213=
NM_000297.4:c.1479G>A MANE Select	NP_000288.1:p.Leu493=
NR_156488.2:n.1578G>A