Canonical Allele Identifier: CA357632869

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88959541A>G (hg19) ; chr4:g.88038389A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88038389A>G , CM000666.2:g.88038389A>G	GRCh38
NC_000004.11:g.88959541A>G , CM000666.1:g.88959541A>G	GRCh37
NC_000004.10:g.89178565A>G	NCBI36
NG_008604.1:g.35722A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000237596.7:c.982A>G MANE Select	ENSP00000237596.2:p.Asn328Asp
ENST00000237596.6:c.982A>G	ENSP00000237596.2:p.Asn328Asp
ENST00000506367.1:n.429A>G
NM_000297.3:c.982A>G	NP_000288.1:p.Asn328Asp
XM_011532028.1:c.982A>G	XP_011530330.1:p.Asn328Asp
XM_011532029.1:c.262A>G	XP_011530331.1:p.Asn88Asp
XM_011532030.1:c.142A>G	XP_011530332.1:p.Asn48Asp
XR_244632.2:n.1077A>G
NR_156488.1:n.1069A>G
XM_011532028.2:c.982A>G	XP_011530330.1:p.Asn328Asp
XM_011532030.2:c.142A>G	XP_011530332.1:p.Asn48Asp
NM_000297.4:c.982A>G MANE Select	NP_000288.1:p.Asn328Asp
NR_156488.2:n.1081A>G