Canonical Allele Identifier: CA357624722

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88986632G>T (hg19) ; chr4:g.88065480G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88065480G>T , CM000666.2:g.88065480G>T	GRCh38
NC_000004.11:g.88986632G>T , CM000666.1:g.88986632G>T	GRCh37
NC_000004.10:g.89205656G>T	NCBI36
NG_008604.1:g.62813G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.2225G>T MANE Select	ENSP00000237596.2:p.Arg742Leu
ENST00000237596.6:c.2225G>T	ENSP00000237596.2:p.Arg742Leu
ENST00000502363.1:c.479G>T	ENSP00000425289.1:p.Arg160Leu
ENST00000508588.5:c.479G>T	ENSP00000427131.1:p.Arg160Leu
ENST00000511337.5:n.477G>T
ENST00000512858.1:n.437G>T
NM_000297.3:c.2225G>T	NP_000288.1:p.Arg742Leu
XM_011532028.1:c.2000G>T	XP_011530330.1:p.Arg667Leu
XM_011532029.1:c.1505G>T	XP_011530331.1:p.Arg502Leu
XM_011532030.1:c.1385G>T	XP_011530332.1:p.Arg462Leu
NR_156488.1:n.2191G>T
XM_011532028.2:c.2000G>T	XP_011530330.1:p.Arg667Leu
XM_011532030.2:c.1385G>T	XP_011530332.1:p.Arg462Leu
NM_000297.4:c.2225G>T MANE Select	NP_000288.1:p.Arg742Leu
NR_156488.2:n.2203G>T