Canonical Allele Identifier: CA357626244
Gene: PKD2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.88929220T>A (hg19) chr4:g.88008068T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88008068T>A , CM000666.2:g.88008068T>A GRCh38
NC_000004.11:g.88929220T>A , CM000666.1:g.88929220T>A GRCh37
NC_000004.10:g.89148244T>A NCBI36
NG_008604.1:g.5401T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.335T>A MANE Select ENSP00000237596.2:p.Val112Glu
ENST00000237596.6:c.335T>A ENSP00000237596.2:p.Val112Glu
NM_000297.3:c.335T>A NP_000288.1:p.Val112Glu
XM_011532028.1:c.335T>A XP_011530330.1:p.Val112Glu
XR_244632.2:n.430T>A
NR_156488.1:n.422T>A
XM_011532028.2:c.335T>A XP_011530330.1:p.Val112Glu
NM_000297.4:c.335T>A MANE Select NP_000288.1:p.Val112Glu
NR_156488.2:n.434T>A
Search 100 bp 5'
Search 100 bp 3'