Canonical Allele Identifier: CA357624731

Gene: PKD2

Linked Data

• gnomAD v4: 4-88065485-G-A
• MyVariant Identifiers: chr4:g.88986637G>A (hg19) ; chr4:g.88065485G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88065485G>A , CM000666.2:g.88065485G>A	GRCh38
NC_000004.11:g.88986637G>A , CM000666.1:g.88986637G>A	GRCh37
NC_000004.10:g.89205661G>A	NCBI36
NG_008604.1:g.62818G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.2230G>A MANE Select	ENSP00000237596.2:p.Asp744Asn
ENST00000237596.6:c.2230G>A	ENSP00000237596.2:p.Asp744Asn
ENST00000502363.1:c.484G>A	ENSP00000425289.1:p.Asp162Asn
ENST00000508588.5:c.484G>A	ENSP00000427131.1:p.Asp162Asn
ENST00000511337.5:n.482G>A
ENST00000512858.1:n.442G>A
NM_000297.3:c.2230G>A	NP_000288.1:p.Asp744Asn
XM_011532028.1:c.2005G>A	XP_011530330.1:p.Asp669Asn
XM_011532029.1:c.1510G>A	XP_011530331.1:p.Asp504Asn
XM_011532030.1:c.1390G>A	XP_011530332.1:p.Asp464Asn
NR_156488.1:n.2196G>A
XM_011532028.2:c.2005G>A	XP_011530330.1:p.Asp669Asn
XM_011532030.2:c.1390G>A	XP_011530332.1:p.Asp464Asn
NM_000297.4:c.2230G>A MANE Select	NP_000288.1:p.Asp744Asn
NR_156488.2:n.2208G>A