Canonical Allele Identifier: CA357615806

Gene: PKD2

Linked Data

• gnomAD v4: 4-88043358-C-G
• MyVariant Identifiers: chr4:g.88964510C>G (hg19) ; chr4:g.88043358C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88043358C>G , CM000666.2:g.88043358C>G	GRCh38
NC_000004.11:g.88964510C>G , CM000666.1:g.88964510C>G	GRCh37
NC_000004.10:g.89183534C>G	NCBI36
NG_008604.1:g.40691C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000237596.7:c.1220C>G MANE Select	ENSP00000237596.2:p.Ala407Gly
ENST00000237596.6:c.1220C>G	ENSP00000237596.2:p.Ala407Gly
ENST00000506367.1:n.667C>G
ENST00000508588.5:c.-298C>G	ENSP00000427131.1:n.-298C>G
NM_000297.3:c.1220C>G	NP_000288.1:p.Ala407Gly
XM_011532028.1:c.1095-3284C>G	XP_011530330.1:n.1095-3284C>G
XM_011532029.1:c.500C>G	XP_011530331.1:p.Ala167Gly
XM_011532030.1:c.380C>G	XP_011530332.1:p.Ala127Gly
XR_244632.2:n.1315C>G
NR_156488.1:n.1307C>G
XM_011532028.2:c.1095-3284C>G	XP_011530330.1:n.1095-3284C>G
XM_011532030.2:c.380C>G	XP_011530332.1:p.Ala127Gly
NM_000297.4:c.1220C>G MANE Select	NP_000288.1:p.Ala407Gly
NR_156488.2:n.1319C>G