Canonical Allele Identifier: CA357624736

Gene: PKD2

Linked Data

• dbSNP Id: rs1720758201
• gnomAD v4: 4-88065487-T-A
• MyVariant Identifiers: chr4:g.88986639T>A (hg19) ; chr4:g.88065487T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88065487T>A , CM000666.2:g.88065487T>A	GRCh38
NC_000004.11:g.88986639T>A , CM000666.1:g.88986639T>A	GRCh37
NC_000004.10:g.89205663T>A	NCBI36
NG_008604.1:g.62820T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.2232T>A MANE Select	ENSP00000237596.2:p.Asp744Glu
ENST00000237596.6:c.2232T>A	ENSP00000237596.2:p.Asp744Glu
ENST00000502363.1:c.486T>A	ENSP00000425289.1:p.Asp162Glu
ENST00000508588.5:c.486T>A	ENSP00000427131.1:p.Asp162Glu
ENST00000511337.5:n.484T>A
ENST00000512858.1:n.444T>A
NM_000297.3:c.2232T>A	NP_000288.1:p.Asp744Glu
XM_011532028.1:c.2007T>A	XP_011530330.1:p.Asp669Glu
XM_011532029.1:c.1512T>A	XP_011530331.1:p.Asp504Glu
XM_011532030.1:c.1392T>A	XP_011530332.1:p.Asp464Glu
NR_156488.1:n.2198T>A
XM_011532028.2:c.2007T>A	XP_011530330.1:p.Asp669Glu
XM_011532030.2:c.1392T>A	XP_011530332.1:p.Asp464Glu
NM_000297.4:c.2232T>A MANE Select	NP_000288.1:p.Asp744Glu
NR_156488.2:n.2210T>A