Canonical Allele Identifier: CA440296490
Gene: PKD2 HGNC NCBI

Linked Data

dbSNP Id: rs1727412730
MyVariant Identifiers: chr4:g.88959411A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88038259A>G , CM000666.2:g.88038259A>G GRCh38
NC_000004.11:g.88959411A>G , CM000666.1:g.88959411A>G GRCh37
NC_000004.10:g.89178435A>G NCBI36
NG_008604.1:g.35592A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.852A>G MANE Select ENSP00000237596.2:p.Glu284=
ENST00000237596.6:c.852A>G ENSP00000237596.2:p.Glu284=
ENST00000506367.1:n.299A>G
ENST00000506727.1:n.438A>G
NM_000297.3:c.852A>G NP_000288.1:p.Glu284=
XM_011532028.1:c.852A>G XP_011530330.1:p.Glu284=
XM_011532029.1:c.132A>G XP_011530331.1:p.Glu44=
XM_011532030.1:c.12A>G XP_011530332.1:p.Glu4=
XR_244632.2:n.947A>G
NR_156488.1:n.939A>G
XM_011532028.2:c.852A>G XP_011530330.1:p.Glu284=
XM_011532030.2:c.12A>G XP_011530332.1:p.Glu4=
NM_000297.4:c.852A>G MANE Select NP_000288.1:p.Glu284=
NR_156488.2:n.951A>G