Canonical Allele Identifier: CA357627139

Gene: PKD2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88068047C>G , CM000666.2:g.88068047C>G	GRCh38
NC_000004.11:g.88989199C>G , CM000666.1:g.88989199C>G	GRCh37
NC_000004.10:g.89208223C>G	NCBI36
NG_008604.1:g.65380C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000297.4:c.2508C>G MANE Select	NP_000288.1:p.Tyr836Ter
ENST00000237596.7:c.2508C>G MANE Select	ENSP00000237596.2:p.Tyr836Ter
NM_000297.3:c.2508C>G	NP_000288.1:p.Tyr836Ter
NR_156488.1:n.2474C>G
NR_156488.2:n.2486C>G
ENST00000237596.6:c.2508C>G	ENSP00000237596.2:p.Tyr836Ter
ENST00000502363.1:c.762C>G	ENSP00000425289.1:p.Tyr254Ter
ENST00000508588.5:c.762C>G	ENSP00000427131.1:p.Tyr254Ter
ENST00000511337.5:n.760C>G
ENST00000512858.1:n.986C>G
XM_011532028.1:c.2283C>G	XP_011530330.1:p.Tyr761Ter
XM_011532028.2:c.2283C>G	XP_011530330.1:p.Tyr761Ter
XM_011532029.1:c.1788C>G	XP_011530331.1:p.Tyr596Ter
XM_011532030.1:c.1668C>G	XP_011530332.1:p.Tyr556Ter
XM_011532030.2:c.1668C>G	XP_011530332.1:p.Tyr556Ter