Canonical Allele Identifier: CA357619680

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88967977C>G (hg19) ; chr4:g.88046825C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046825C>G , CM000666.2:g.88046825C>G	GRCh38
NC_000004.11:g.88967977C>G , CM000666.1:g.88967977C>G	GRCh37
NC_000004.10:g.89187001C>G	NCBI36
NG_008604.1:g.44158C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1503C>G MANE Select	ENSP00000237596.2:p.His501Gln
ENST00000237596.6:c.1503C>G	ENSP00000237596.2:p.His501Gln
ENST00000508588.5:c.-199+3368C>G	ENSP00000427131.1:n.-199+3368C>G
NM_000297.3:c.1503C>G	NP_000288.1:p.His501Gln
XM_011532028.1:c.1278C>G	XP_011530330.1:p.His426Gln
XM_011532029.1:c.783C>G	XP_011530331.1:p.His261Gln
XM_011532030.1:c.663C>G	XP_011530332.1:p.His221Gln
XR_244632.2:n.1598C>G
NR_156488.1:n.1590C>G
XM_011532028.2:c.1278C>G	XP_011530330.1:p.His426Gln
XM_011532030.2:c.663C>G	XP_011530332.1:p.His221Gln
NM_000297.4:c.1503C>G MANE Select	NP_000288.1:p.His501Gln
NR_156488.2:n.1602C>G