Canonical Allele Identifier: CA440262104

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88964508T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88043356T>A , CM000666.2:g.88043356T>A	GRCh38
NC_000004.11:g.88964508T>A , CM000666.1:g.88964508T>A	GRCh37
NC_000004.10:g.89183532T>A	NCBI36
NG_008604.1:g.40689T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000237596.7:c.1218T>A MANE Select	ENSP00000237596.2:p.Val406=
ENST00000237596.6:c.1218T>A	ENSP00000237596.2:p.Val406=
ENST00000506367.1:n.665T>A
ENST00000508588.5:c.-300T>A	ENSP00000427131.1:n.-300T>A
NM_000297.3:c.1218T>A	NP_000288.1:p.Val406=
XM_011532028.1:c.1095-3286T>A	XP_011530330.1:n.1095-3286T>A
XM_011532029.1:c.498T>A	XP_011530331.1:p.Val166=
XM_011532030.1:c.378T>A	XP_011530332.1:p.Val126=
XR_244632.2:n.1313T>A
NR_156488.1:n.1305T>A
XM_011532028.2:c.1095-3286T>A	XP_011530330.1:n.1095-3286T>A
XM_011532030.2:c.378T>A	XP_011530332.1:p.Val126=
NM_000297.4:c.1218T>A MANE Select	NP_000288.1:p.Val406=
NR_156488.2:n.1317T>A