Canonical Allele Identifier: CA357624730

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88986636A>T (hg19) ; chr4:g.88065484A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88065484A>T , CM000666.2:g.88065484A>T	GRCh38
NC_000004.11:g.88986636A>T , CM000666.1:g.88986636A>T	GRCh37
NC_000004.10:g.89205660A>T	NCBI36
NG_008604.1:g.62817A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.2229A>T MANE Select	ENSP00000237596.2:p.Gln743His
ENST00000237596.6:c.2229A>T	ENSP00000237596.2:p.Gln743His
ENST00000502363.1:c.483A>T	ENSP00000425289.1:p.Gln161His
ENST00000508588.5:c.483A>T	ENSP00000427131.1:p.Gln161His
ENST00000511337.5:n.481A>T
ENST00000512858.1:n.441A>T
NM_000297.3:c.2229A>T	NP_000288.1:p.Gln743His
XM_011532028.1:c.2004A>T	XP_011530330.1:p.Gln668His
XM_011532029.1:c.1509A>T	XP_011530331.1:p.Gln503His
XM_011532030.1:c.1389A>T	XP_011530332.1:p.Gln463His
NR_156488.1:n.2195A>T
XM_011532028.2:c.2004A>T	XP_011530330.1:p.Gln668His
XM_011532030.2:c.1389A>T	XP_011530332.1:p.Gln463His
NM_000297.4:c.2229A>T MANE Select	NP_000288.1:p.Gln743His
NR_156488.2:n.2207A>T