Canonical Allele Identifier: CA357623228

Gene: PKD2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88058072C>T , CM000666.2:g.88058072C>T	GRCh38
NC_000004.11:g.88979224C>T , CM000666.1:g.88979224C>T	GRCh37
NC_000004.10:g.89198248C>T	NCBI36
NG_008604.1:g.55405C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000297.4:c.1988C>T MANE Select	NP_000288.1:p.Thr663Ile
ENST00000237596.7:c.1988C>T MANE Select	ENSP00000237596.2:p.Thr663Ile
NM_000297.3:c.1988C>T	NP_000288.1:p.Thr663Ile
NR_156488.1:n.1985+1805C>T
NR_156488.2:n.1997+1805C>T
ENST00000237596.6:c.1988C>T	ENSP00000237596.2:p.Thr663Ile
ENST00000502363.1:c.242C>T	ENSP00000425289.1:p.Thr81Ile
ENST00000508588.5:c.242C>T	ENSP00000427131.1:p.Thr81Ile
ENST00000511337.5:n.271+1805C>T
ENST00000512858.1:n.231+1805C>T
XM_011532028.1:c.1763C>T	XP_011530330.1:p.Thr588Ile
XM_011532028.2:c.1763C>T	XP_011530330.1:p.Thr588Ile
XM_011532029.1:c.1268C>T	XP_011530331.1:p.Thr423Ile
XM_011532030.1:c.1148C>T	XP_011530332.1:p.Thr383Ile
XM_011532030.2:c.1148C>T	XP_011530332.1:p.Thr383Ile
XR_244632.2:n.1993+1805C>T