Canonical Allele Identifier: CA357615556

Gene: PKD2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88043306G>A , CM000666.2:g.88043306G>A	GRCh38
NC_000004.11:g.88964458G>A , CM000666.1:g.88964458G>A	GRCh37
NC_000004.10:g.89183482G>A	NCBI36
NG_008604.1:g.40639G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1168G>A MANE Select	ENSP00000237596.2:p.Gly390Ser
ENST00000237596.6:c.1168G>A	ENSP00000237596.2:p.Gly390Ser
ENST00000506367.1:n.615G>A
ENST00000508588.5:c.-350G>A	ENSP00000427131.1:n.-350G>A
NM_000297.3:c.1168G>A	NP_000288.1:p.Gly390Ser
XM_011532028.1:c.1095-3336G>A	XP_011530330.1:n.1095-3336G>A
XM_011532029.1:c.448G>A	XP_011530331.1:p.Gly150Ser
XM_011532030.1:c.328G>A	XP_011530332.1:p.Gly110Ser
XR_244632.2:n.1263G>A
NR_156488.1:n.1255G>A
XM_011532028.2:c.1095-3336G>A	XP_011530330.1:n.1095-3336G>A
XM_011532030.2:c.328G>A	XP_011530332.1:p.Gly110Ser
NM_000297.4:c.1168G>A MANE Select	NP_000288.1:p.Gly390Ser
NR_156488.2:n.1267G>A