Canonical Allele Identifier: CA357615936

Gene: PKD2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88043387C>T , CM000666.2:g.88043387C>T	GRCh38
NC_000004.11:g.88964539C>T , CM000666.1:g.88964539C>T	GRCh37
NC_000004.10:g.89183563C>T	NCBI36
NG_008604.1:g.40720C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000297.4:c.1249C>T MANE Select	NP_000288.1:p.Arg417Ter
ENST00000237596.7:c.1249C>T MANE Select	ENSP00000237596.2:p.Arg417Ter
NM_000297.3:c.1249C>T	NP_000288.1:p.Arg417Ter
NR_156488.1:n.1336C>T
NR_156488.2:n.1348C>T
ENST00000237596.6:c.1249C>T	ENSP00000237596.2:p.Arg417Ter
ENST00000508588.5:c.-269C>T	ENSP00000427131.1:n.-269C>T
XM_011532028.1:c.1095-3255C>T	XP_011530330.1:n.1095-3255C>T
XM_011532028.2:c.1095-3255C>T	XP_011530330.1:n.1095-3255C>T
XM_011532029.1:c.529C>T	XP_011530331.1:p.Arg177Ter
XM_011532030.1:c.409C>T	XP_011530332.1:p.Arg137Ter
XM_011532030.2:c.409C>T	XP_011530332.1:p.Arg137Ter
XR_244632.2:n.1344C>T