Canonical Allele Identifier: CA2573052373

Gene: PKD2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88043462G>A , CM000666.2:g.88043462G>A	GRCh38
NC_000004.11:g.88964614G>A , CM000666.1:g.88964614G>A	GRCh37
NC_000004.10:g.89183638G>A	NCBI36
NG_008604.1:g.40795G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000297.4:c.1319+5G>A MANE Select	NP_000288.1:n.1319+5G>A
ENST00000237596.7:c.1319+5G>A MANE Select	ENSP00000237596.2:n.1319+5G>A
NM_000297.3:c.1319+5G>A	NP_000288.1:n.1319+5G>A
NR_156488.1:n.1406+5G>A
NR_156488.2:n.1418+5G>A
ENST00000237596.6:c.1319+5G>A	ENSP00000237596.2:n.1319+5G>A
ENST00000508588.5:c.-199+5G>A	ENSP00000427131.1:n.-199+5G>A
XM_011532028.1:c.1095-3180G>A	XP_011530330.1:n.1095-3180G>A
XM_011532028.2:c.1095-3180G>A	XP_011530330.1:n.1095-3180G>A
XM_011532029.1:c.599+5G>A	XP_011530331.1:n.599+5G>A
XM_011532030.1:c.479+5G>A	XP_011530332.1:n.479+5G>A
XM_011532030.2:c.479+5G>A	XP_011530332.1:n.479+5G>A
XR_244632.2:n.1414+5G>A