Canonical Allele Identifier: CA357615547

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88964455G>C (hg19) ; chr4:g.88043303G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88043303G>C , CM000666.2:g.88043303G>C	GRCh38
NC_000004.11:g.88964455G>C , CM000666.1:g.88964455G>C	GRCh37
NC_000004.10:g.89183479G>C	NCBI36
NG_008604.1:g.40636G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1165G>C MANE Select	ENSP00000237596.2:p.Ala389Pro
ENST00000237596.6:c.1165G>C	ENSP00000237596.2:p.Ala389Pro
ENST00000506367.1:n.612G>C
ENST00000508588.5:c.-353G>C	ENSP00000427131.1:n.-353G>C
NM_000297.3:c.1165G>C	NP_000288.1:p.Ala389Pro
XM_011532028.1:c.1095-3339G>C	XP_011530330.1:n.1095-3339G>C
XM_011532029.1:c.445G>C	XP_011530331.1:p.Ala149Pro
XM_011532030.1:c.325G>C	XP_011530332.1:p.Ala109Pro
XR_244632.2:n.1260G>C
NR_156488.1:n.1252G>C
XM_011532028.2:c.1095-3339G>C	XP_011530330.1:n.1095-3339G>C
XM_011532030.2:c.325G>C	XP_011530332.1:p.Ala109Pro
NM_000297.4:c.1165G>C MANE Select	NP_000288.1:p.Ala389Pro
NR_156488.2:n.1264G>C