Canonical Allele Identifier: CA440297120

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88959640C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88038488C>A , CM000666.2:g.88038488C>A	GRCh38
NC_000004.11:g.88959640C>A , CM000666.1:g.88959640C>A	GRCh37
NC_000004.10:g.89178664C>A	NCBI36
NG_008604.1:g.35821C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1081C>A MANE Select	ENSP00000237596.2:p.Arg361=
ENST00000237596.6:c.1081C>A	ENSP00000237596.2:p.Arg361=
ENST00000506367.1:n.528C>A
NM_000297.3:c.1081C>A	NP_000288.1:p.Arg361=
XM_011532028.1:c.1081C>A	XP_011530330.1:p.Arg361=
XM_011532029.1:c.361C>A	XP_011530331.1:p.Arg121=
XM_011532030.1:c.241C>A	XP_011530332.1:p.Arg81=
XR_244632.2:n.1176C>A
NR_156488.1:n.1168C>A
XM_011532028.2:c.1081C>A	XP_011530330.1:p.Arg361=
XM_011532030.2:c.241C>A	XP_011530332.1:p.Arg81=
NM_000297.4:c.1081C>A MANE Select	NP_000288.1:p.Arg361=
NR_156488.2:n.1180C>A