Canonical Allele Identifier: CA357632287

Gene: PKD2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88038267T>G , CM000666.2:g.88038267T>G	GRCh38
NC_000004.11:g.88959419T>G , CM000666.1:g.88959419T>G	GRCh37
NC_000004.10:g.89178443T>G	NCBI36
NG_008604.1:g.35600T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000297.4:c.860T>G MANE Select	NP_000288.1:p.Leu287Ter
ENST00000237596.7:c.860T>G MANE Select	ENSP00000237596.2:p.Leu287Ter
NM_000297.3:c.860T>G	NP_000288.1:p.Leu287Ter
NR_156488.1:n.947T>G
NR_156488.2:n.959T>G
ENST00000237596.6:c.860T>G	ENSP00000237596.2:p.Leu287Ter
ENST00000506367.1:n.307T>G
ENST00000506727.1:n.446T>G
XM_011532028.1:c.860T>G	XP_011530330.1:p.Leu287Ter
XM_011532028.2:c.860T>G	XP_011530330.1:p.Leu287Ter
XM_011532029.1:c.140T>G	XP_011530331.1:p.Leu47Ter
XM_011532030.1:c.20T>G	XP_011530332.1:p.Leu7Ter
XM_011532030.2:c.20T>G	XP_011530332.1:p.Leu7Ter
XR_244632.2:n.955T>G