Canonical Allele Identifier: CA357624735

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88986638A>C (hg19) ; chr4:g.88065486A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88065486A>C , CM000666.2:g.88065486A>C	GRCh38
NC_000004.11:g.88986638A>C , CM000666.1:g.88986638A>C	GRCh37
NC_000004.10:g.89205662A>C	NCBI36
NG_008604.1:g.62819A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.2231A>C MANE Select	ENSP00000237596.2:p.Asp744Ala
ENST00000237596.6:c.2231A>C	ENSP00000237596.2:p.Asp744Ala
ENST00000502363.1:c.485A>C	ENSP00000425289.1:p.Asp162Ala
ENST00000508588.5:c.485A>C	ENSP00000427131.1:p.Asp162Ala
ENST00000511337.5:n.483A>C
ENST00000512858.1:n.443A>C
NM_000297.3:c.2231A>C	NP_000288.1:p.Asp744Ala
XM_011532028.1:c.2006A>C	XP_011530330.1:p.Asp669Ala
XM_011532029.1:c.1511A>C	XP_011530331.1:p.Asp504Ala
XM_011532030.1:c.1391A>C	XP_011530332.1:p.Asp464Ala
NR_156488.1:n.2197A>C
XM_011532028.2:c.2006A>C	XP_011530330.1:p.Asp669Ala
XM_011532030.2:c.1391A>C	XP_011530332.1:p.Asp464Ala
NM_000297.4:c.2231A>C MANE Select	NP_000288.1:p.Asp744Ala
NR_156488.2:n.2209A>C