Canonical Allele Identifier: CA3003866

Gene: PKD2

Linked Data

• dbSNP Id: rs754433479
• ExAC: 4:88959642 A / G
• gnomAD v2: 4-88959642-A-G
• gnomAD v4: 4-88038490-A-G
• MyVariant Identifiers: chr4:g.88959642A>G (hg19) ; chr4:g.88038490A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88038490A>G , CM000666.2:g.88038490A>G	GRCh38
NC_000004.11:g.88959642A>G , CM000666.1:g.88959642A>G	GRCh37
NC_000004.10:g.89178666A>G	NCBI36
NG_008604.1:g.35823A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1083A>G MANE Select	ENSP00000237596.2:p.Arg361=
ENST00000237596.6:c.1083A>G	ENSP00000237596.2:p.Arg361=
ENST00000506367.1:n.530A>G
NM_000297.3:c.1083A>G	NP_000288.1:p.Arg361=
XM_011532028.1:c.1083A>G	XP_011530330.1:p.Arg361=
XM_011532029.1:c.363A>G	XP_011530331.1:p.Arg121=
XM_011532030.1:c.243A>G	XP_011530332.1:p.Arg81=
XR_244632.2:n.1178A>G
NR_156488.1:n.1170A>G
XM_011532028.2:c.1083A>G	XP_011530330.1:p.Arg361=
XM_011532030.2:c.243A>G	XP_011530332.1:p.Arg81=
NM_000297.4:c.1083A>G MANE Select	NP_000288.1:p.Arg361=
NR_156488.2:n.1182A>G