Canonical Allele Identifier: CA357615514

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88964441C>G (hg19) ; chr4:g.88043289C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88043289C>G , CM000666.2:g.88043289C>G	GRCh38
NC_000004.11:g.88964441C>G , CM000666.1:g.88964441C>G	GRCh37
NC_000004.10:g.89183465C>G	NCBI36
NG_008604.1:g.40622C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1151C>G MANE Select	ENSP00000237596.2:p.Ala384Gly
ENST00000237596.6:c.1151C>G	ENSP00000237596.2:p.Ala384Gly
ENST00000506367.1:n.598C>G
ENST00000508588.5:c.-367C>G	ENSP00000427131.1:n.-367C>G
NM_000297.3:c.1151C>G	NP_000288.1:p.Ala384Gly
XM_011532028.1:c.1095-3353C>G	XP_011530330.1:n.1095-3353C>G
XM_011532029.1:c.431C>G	XP_011530331.1:p.Ala144Gly
XM_011532030.1:c.311C>G	XP_011530332.1:p.Ala104Gly
XR_244632.2:n.1246C>G
NR_156488.1:n.1238C>G
XM_011532028.2:c.1095-3353C>G	XP_011530330.1:n.1095-3353C>G
XM_011532030.2:c.311C>G	XP_011530332.1:p.Ala104Gly
NM_000297.4:c.1151C>G MANE Select	NP_000288.1:p.Ala384Gly
NR_156488.2:n.1250C>G