Canonical Allele Identifier: CA357633064

Gene: PKD2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88038440T>A , CM000666.2:g.88038440T>A	GRCh38
NC_000004.11:g.88959592T>A , CM000666.1:g.88959592T>A	GRCh37
NC_000004.10:g.89178616T>A	NCBI36
NG_008604.1:g.35773T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000297.4:c.1033T>A MANE Select	NP_000288.1:p.Tyr345Asn
ENST00000237596.7:c.1033T>A MANE Select	ENSP00000237596.2:p.Tyr345Asn
NM_000297.3:c.1033T>A	NP_000288.1:p.Tyr345Asn
NR_156488.1:n.1120T>A
NR_156488.2:n.1132T>A
ENST00000237596.6:c.1033T>A	ENSP00000237596.2:p.Tyr345Asn
ENST00000506367.1:n.480T>A
XM_011532028.1:c.1033T>A	XP_011530330.1:p.Tyr345Asn
XM_011532028.2:c.1033T>A	XP_011530330.1:p.Tyr345Asn
XM_011532029.1:c.313T>A	XP_011530331.1:p.Tyr105Asn
XM_011532030.1:c.193T>A	XP_011530332.1:p.Tyr65Asn
XM_011532030.2:c.193T>A	XP_011530332.1:p.Tyr65Asn
XR_244632.2:n.1128T>A