Canonical Allele Identifier: CA3003854

Gene: PKD2

Linked Data

• dbSNP Id: rs760099004
• ExAC: 4:88959543 T / G
• MyVariant Identifiers: chr4:g.88959543T>G (hg19) ; chr4:g.88038391T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88038391T>G , CM000666.2:g.88038391T>G	GRCh38
NC_000004.11:g.88959543T>G , CM000666.1:g.88959543T>G	GRCh37
NC_000004.10:g.89178567T>G	NCBI36
NG_008604.1:g.35724T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000237596.7:c.984T>G MANE Select	ENSP00000237596.2:p.Asn328Lys
ENST00000237596.6:c.984T>G	ENSP00000237596.2:p.Asn328Lys
ENST00000506367.1:n.431T>G
NM_000297.3:c.984T>G	NP_000288.1:p.Asn328Lys
XM_011532028.1:c.984T>G	XP_011530330.1:p.Asn328Lys
XM_011532029.1:c.264T>G	XP_011530331.1:p.Asn88Lys
XM_011532030.1:c.144T>G	XP_011530332.1:p.Asn48Lys
XR_244632.2:n.1079T>G
NR_156488.1:n.1071T>G
XM_011532028.2:c.984T>G	XP_011530330.1:p.Asn328Lys
XM_011532030.2:c.144T>G	XP_011530332.1:p.Asn48Lys
NM_000297.4:c.984T>G MANE Select	NP_000288.1:p.Asn328Lys
NR_156488.2:n.1083T>G