Canonical Allele Identifier: CA357625238
Gene: PKD2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.88928998C>G (hg19) chr4:g.88007846C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007846C>G , CM000666.2:g.88007846C>G GRCh38
NC_000004.11:g.88928998C>G , CM000666.1:g.88928998C>G GRCh37
NC_000004.10:g.89148022C>G NCBI36
NG_008604.1:g.5179C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.113C>G MANE Select ENSP00000237596.2:p.Ala38Gly
ENST00000237596.6:c.113C>G ENSP00000237596.2:p.Ala38Gly
NM_000297.3:c.113C>G NP_000288.1:p.Ala38Gly
XM_011532028.1:c.113C>G XP_011530330.1:p.Ala38Gly
XR_244632.2:n.208C>G
NR_156488.1:n.200C>G
XM_011532028.2:c.113C>G XP_011530330.1:p.Ala38Gly
NM_000297.4:c.113C>G MANE Select NP_000288.1:p.Ala38Gly
NR_156488.2:n.212C>G
Search 100 bp 5'
Search 100 bp 3'