Canonical Allele Identifier: CA357624725

Gene: PKD2

Linked Data

• gnomAD v4: 4-88065482-C-G
• MyVariant Identifiers: chr4:g.88986634C>G (hg19) ; chr4:g.88065482C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88065482C>G , CM000666.2:g.88065482C>G	GRCh38
NC_000004.11:g.88986634C>G , CM000666.1:g.88986634C>G	GRCh37
NC_000004.10:g.89205658C>G	NCBI36
NG_008604.1:g.62815C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.2227C>G MANE Select	ENSP00000237596.2:p.Gln743Glu
ENST00000237596.6:c.2227C>G	ENSP00000237596.2:p.Gln743Glu
ENST00000502363.1:c.481C>G	ENSP00000425289.1:p.Gln161Glu
ENST00000508588.5:c.481C>G	ENSP00000427131.1:p.Gln161Glu
ENST00000511337.5:n.479C>G
ENST00000512858.1:n.439C>G
NM_000297.3:c.2227C>G	NP_000288.1:p.Gln743Glu
XM_011532028.1:c.2002C>G	XP_011530330.1:p.Gln668Glu
XM_011532029.1:c.1507C>G	XP_011530331.1:p.Gln503Glu
XM_011532030.1:c.1387C>G	XP_011530332.1:p.Gln463Glu
NR_156488.1:n.2193C>G
XM_011532028.2:c.2002C>G	XP_011530330.1:p.Gln668Glu
XM_011532030.2:c.1387C>G	XP_011530332.1:p.Gln463Glu
NM_000297.4:c.2227C>G MANE Select	NP_000288.1:p.Gln743Glu
NR_156488.2:n.2205C>G