Canonical Allele Identifier: CA357631187

Gene: PKD2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88036258A>T , CM000666.2:g.88036258A>T	GRCh38
NC_000004.11:g.88957410A>T , CM000666.1:g.88957410A>T	GRCh37
NC_000004.10:g.89176434A>T	NCBI36
NG_008604.1:g.33591A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.748A>T MANE Select	ENSP00000237596.2:p.Thr250Ser
ENST00000237596.6:c.748A>T	ENSP00000237596.2:p.Thr250Ser
ENST00000506367.1:n.195A>T
ENST00000506727.1:n.334A>T
NM_000297.3:c.748A>T	NP_000288.1:p.Thr250Ser
XM_011532028.1:c.748A>T	XP_011530330.1:p.Thr250Ser
XM_011532029.1:c.28A>T	XP_011530331.1:p.Thr10Ser
XR_244632.2:n.843A>T
NR_156488.1:n.835A>T
XM_011532028.2:c.748A>T	XP_011530330.1:p.Thr250Ser
XM_011532030.2:c.-220A>T	XP_011530332.1:n.-220A>T
NM_000297.4:c.748A>T MANE Select	NP_000288.1:p.Thr250Ser
NR_156488.2:n.847A>T