Canonical Allele Identifier: CA3004353

Gene: PKD2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88075541C>T , CM000666.2:g.88075541C>T	GRCh38
NC_000004.11:g.88996693C>T , CM000666.1:g.88996693C>T	GRCh37
NC_000004.10:g.89215717C>T	NCBI36
NG_008604.1:g.72874C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000297.4:c.2754C>T MANE Select	NP_000288.1:p.Ser918=
ENST00000237596.7:c.2754C>T MANE Select	ENSP00000237596.2:p.Ser918=
NM_000297.3:c.2754C>T	NP_000288.1:p.Ser918=
NR_156488.1:n.2720C>T
NR_156488.2:n.2732C>T
ENST00000237596.6:c.2754C>T	ENSP00000237596.2:p.Ser918=
ENST00000502363.1:c.1008C>T	ENSP00000425289.1:p.Ser336=
ENST00000508588.5:c.1008C>T	ENSP00000427131.1:p.Ser336=
ENST00000511337.5:n.1006C>T
ENST00000512858.1:n.1232C>T
XM_011532028.1:c.2529C>T	XP_011530330.1:p.Ser843=
XM_011532028.2:c.2529C>T	XP_011530330.1:p.Ser843=
XM_011532029.1:c.2034C>T	XP_011530331.1:p.Ser678=
XM_011532030.1:c.1914C>T	XP_011530332.1:p.Ser638=
XM_011532030.2:c.1914C>T	XP_011530332.1:p.Ser638=