Canonical Allele Identifier: CA357632471

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88959445C>A (hg19) ; chr4:g.88038293C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88038293C>A , CM000666.2:g.88038293C>A	GRCh38
NC_000004.11:g.88959445C>A , CM000666.1:g.88959445C>A	GRCh37
NC_000004.10:g.89178469C>A	NCBI36
NG_008604.1:g.35626C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000237596.7:c.886C>A MANE Select	ENSP00000237596.2:p.Gln296Lys
ENST00000237596.6:c.886C>A	ENSP00000237596.2:p.Gln296Lys
ENST00000506367.1:n.333C>A
ENST00000506727.1:n.472C>A
NM_000297.3:c.886C>A	NP_000288.1:p.Gln296Lys
XM_011532028.1:c.886C>A	XP_011530330.1:p.Gln296Lys
XM_011532029.1:c.166C>A	XP_011530331.1:p.Gln56Lys
XM_011532030.1:c.46C>A	XP_011530332.1:p.Gln16Lys
XR_244632.2:n.981C>A
NR_156488.1:n.973C>A
XM_011532028.2:c.886C>A	XP_011530330.1:p.Gln296Lys
XM_011532030.2:c.46C>A	XP_011530332.1:p.Gln16Lys
NM_000297.4:c.886C>A MANE Select	NP_000288.1:p.Gln296Lys
NR_156488.2:n.985C>A