Canonical Allele Identifier: CA357621697

Gene: PKD2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88052051C>T , CM000666.2:g.88052051C>T	GRCh38
NC_000004.11:g.88973203C>T , CM000666.1:g.88973203C>T	GRCh37
NC_000004.10:g.89192227C>T	NCBI36
NG_008604.1:g.49384C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000297.4:c.1609C>T MANE Select	NP_000288.1:p.Gln537Ter
ENST00000237596.7:c.1609C>T MANE Select	ENSP00000237596.2:p.Gln537Ter
NM_000297.3:c.1609C>T	NP_000288.1:p.Gln537Ter
NR_156488.1:n.1696C>T
NR_156488.2:n.1708C>T
ENST00000237596.6:c.1609C>T	ENSP00000237596.2:p.Gln537Ter
ENST00000508588.5:c.-138C>T	ENSP00000427131.1:n.-138C>T
XM_011532028.1:c.1384C>T	XP_011530330.1:p.Gln462Ter
XM_011532028.2:c.1384C>T	XP_011530330.1:p.Gln462Ter
XM_011532029.1:c.889C>T	XP_011530331.1:p.Gln297Ter
XM_011532030.1:c.769C>T	XP_011530332.1:p.Gln257Ter
XM_011532030.2:c.769C>T	XP_011530332.1:p.Gln257Ter
XR_244632.2:n.1704C>T