Canonical Allele Identifier: CA357618639

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88967840C>G (hg19) ; chr4:g.88046688C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046688C>G , CM000666.2:g.88046688C>G	GRCh38
NC_000004.11:g.88967840C>G , CM000666.1:g.88967840C>G	GRCh37
NC_000004.10:g.89186864C>G	NCBI36
NG_008604.1:g.44021C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1366C>G MANE Select	ENSP00000237596.2:p.Gln456Glu
ENST00000237596.6:c.1366C>G	ENSP00000237596.2:p.Gln456Glu
ENST00000508588.5:c.-199+3231C>G	ENSP00000427131.1:n.-199+3231C>G
NM_000297.3:c.1366C>G	NP_000288.1:p.Gln456Glu
XM_011532028.1:c.1141C>G	XP_011530330.1:p.Gln381Glu
XM_011532029.1:c.646C>G	XP_011530331.1:p.Gln216Glu
XM_011532030.1:c.526C>G	XP_011530332.1:p.Gln176Glu
XR_244632.2:n.1461C>G
NR_156488.1:n.1453C>G
XM_011532028.2:c.1141C>G	XP_011530330.1:p.Gln381Glu
XM_011532030.2:c.526C>G	XP_011530332.1:p.Gln176Glu
NM_000297.4:c.1366C>G MANE Select	NP_000288.1:p.Gln456Glu
NR_156488.2:n.1465C>G