Canonical Allele Identifier: CA2671365061
Gene: PKD2 HGNC NCBI

Linked Data

gnomAD v4: 4-88007674-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007674T>C , CM000666.2:g.88007674T>C GRCh38
NC_000004.11:g.88928826T>C , CM000666.1:g.88928826T>C GRCh37
NC_000004.10:g.89147850T>C NCBI36
NG_008604.1:g.5007T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.-60T>C MANE Select ENSP00000237596.2:n.-60T>C
ENST00000237596.6:c.-60T>C ENSP00000237596.2:n.-60T>C
NM_000297.3:c.-60T>C NP_000288.1:n.-60T>C
XM_011532028.1:c.-60T>C XP_011530330.1:n.-60T>C
XR_244632.2:n.36T>C
NR_156488.1:n.28T>C
XM_011532028.2:c.-60T>C XP_011530330.1:n.-60T>C
NM_000297.4:c.-60T>C MANE Select NP_000288.1:n.-60T>C
NR_156488.2:n.40T>C
Search 100 bp 5'
Search 100 bp 3'