Canonical Allele Identifier: CA357622877

Gene: PKD2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88056212G>A , CM000666.2:g.88056212G>A	GRCh38
NC_000004.11:g.88977364G>A , CM000666.1:g.88977364G>A	GRCh37
NC_000004.10:g.89196388G>A	NCBI36
NG_008604.1:g.53545G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000297.4:c.1843G>A MANE Select	NP_000288.1:p.Ala615Thr
ENST00000237596.7:c.1843G>A MANE Select	ENSP00000237596.2:p.Ala615Thr
NM_000297.3:c.1843G>A	NP_000288.1:p.Ala615Thr
NR_156488.1:n.1930G>A
NR_156488.2:n.1942G>A
ENST00000237596.6:c.1843G>A	ENSP00000237596.2:p.Ala615Thr
ENST00000502363.1:c.97G>A	ENSP00000425289.1:p.Ala33Thr
ENST00000508588.5:c.97G>A	ENSP00000427131.1:p.Ala33Thr
ENST00000511337.5:n.216G>A
ENST00000512858.1:n.176G>A
XM_011532028.1:c.1618G>A	XP_011530330.1:p.Ala540Thr
XM_011532028.2:c.1618G>A	XP_011530330.1:p.Ala540Thr
XM_011532029.1:c.1123G>A	XP_011530331.1:p.Ala375Thr
XM_011532030.1:c.1003G>A	XP_011530332.1:p.Ala335Thr
XM_011532030.2:c.1003G>A	XP_011530332.1:p.Ala335Thr
XR_244632.2:n.1938G>A