Canonical Allele Identifier: CA357615549

Gene: PKD2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1165G>T MANE Select	ENSP00000237596.2:p.Ala389Ser
ENST00000237596.6:c.1165G>T	ENSP00000237596.2:p.Ala389Ser
ENST00000506367.1:n.612G>T
ENST00000508588.5:c.-353G>T	ENSP00000427131.1:n.-353G>T
NM_000297.3:c.1165G>T	NP_000288.1:p.Ala389Ser
XM_011532028.1:c.1095-3339G>T	XP_011530330.1:n.1095-3339G>T
XM_011532029.1:c.445G>T	XP_011530331.1:p.Ala149Ser
XM_011532030.1:c.325G>T	XP_011530332.1:p.Ala109Ser
XR_244632.2:n.1260G>T
NR_156488.1:n.1252G>T
XM_011532028.2:c.1095-3339G>T	XP_011530330.1:n.1095-3339G>T
XM_011532030.2:c.325G>T	XP_011530332.1:p.Ala109Ser
NM_000297.4:c.1165G>T MANE Select	NP_000288.1:p.Ala389Ser
NR_156488.2:n.1264G>T