Canonical Allele Identifier: CA440297127
Gene: PKD2 HGNC NCBI

Linked Data

dbSNP Id: rs1727425639
MyVariant Identifiers: chr4:g.88959645T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88038493T>C , CM000666.2:g.88038493T>C GRCh38
NC_000004.11:g.88959645T>C , CM000666.1:g.88959645T>C GRCh37
NC_000004.10:g.89178669T>C NCBI36
NG_008604.1:g.35826T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.1086T>C MANE Select ENSP00000237596.2:p.Asn362=
ENST00000237596.6:c.1086T>C ENSP00000237596.2:p.Asn362=
ENST00000506367.1:n.533T>C
NM_000297.3:c.1086T>C NP_000288.1:p.Asn362=
XM_011532028.1:c.1086T>C XP_011530330.1:p.Asn362=
XM_011532029.1:c.366T>C XP_011530331.1:p.Asn122=
XM_011532030.1:c.246T>C XP_011530332.1:p.Asn82=
XR_244632.2:n.1181T>C
NR_156488.1:n.1173T>C
XM_011532028.2:c.1086T>C XP_011530330.1:p.Asn362=
XM_011532030.2:c.246T>C XP_011530332.1:p.Asn82=
NM_000297.4:c.1086T>C MANE Select NP_000288.1:p.Asn362=
NR_156488.2:n.1185T>C