Canonical Allele Identifier: CA440268296
Gene: PKD2 HGNC NCBI

Linked Data

gnomAD v4: 4-88007754-G-T
MyVariant Identifiers: chr4:g.88928906G>T (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007754G>T , CM000666.2:g.88007754G>T GRCh38
NC_000004.11:g.88928906G>T , CM000666.1:g.88928906G>T GRCh37
NC_000004.10:g.89147930G>T NCBI36
NG_008604.1:g.5087G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.21G>T MANE Select ENSP00000237596.2:p.Val7=
ENST00000237596.6:c.21G>T ENSP00000237596.2:p.Val7=
NM_000297.3:c.21G>T NP_000288.1:p.Val7=
XM_011532028.1:c.21G>T XP_011530330.1:p.Val7=
XR_244632.2:n.116G>T
NR_156488.1:n.108G>T
XM_011532028.2:c.21G>T XP_011530330.1:p.Val7=
NM_000297.4:c.21G>T MANE Select NP_000288.1:p.Val7=
NR_156488.2:n.120G>T
Search 100 bp 5'
Search 100 bp 3'