Canonical Allele Identifier: CA357618391

Gene: PKD2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046647T>A , CM000666.2:g.88046647T>A	GRCh38
NC_000004.11:g.88967799T>A , CM000666.1:g.88967799T>A	GRCh37
NC_000004.10:g.89186823T>A	NCBI36
NG_008604.1:g.43980T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000297.4:c.1325T>A MANE Select	NP_000288.1:p.Leu442Ter
ENST00000237596.7:c.1325T>A MANE Select	ENSP00000237596.2:p.Leu442Ter
NM_000297.3:c.1325T>A	NP_000288.1:p.Leu442Ter
NR_156488.1:n.1412T>A
NR_156488.2:n.1424T>A
ENST00000237596.6:c.1325T>A	ENSP00000237596.2:p.Leu442Ter
ENST00000508588.5:c.-199+3190T>A	ENSP00000427131.1:n.-199+3190T>A
XM_011532028.1:c.1100T>A	XP_011530330.1:p.Leu367Ter
XM_011532028.2:c.1100T>A	XP_011530330.1:p.Leu367Ter
XM_011532029.1:c.605T>A	XP_011530331.1:p.Leu202Ter
XM_011532030.1:c.485T>A	XP_011530332.1:p.Leu162Ter
XM_011532030.2:c.485T>A	XP_011530332.1:p.Leu162Ter
XR_244632.2:n.1420T>A