Canonical Allele Identifier: CA440296825
Gene: PKD2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.88929266C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88008114C>G , CM000666.2:g.88008114C>G GRCh38
NC_000004.11:g.88929266C>G , CM000666.1:g.88929266C>G GRCh37
NC_000004.10:g.89148290C>G NCBI36
NG_008604.1:g.5447C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.381C>G MANE Select ENSP00000237596.2:p.Ala127=
ENST00000237596.6:c.381C>G ENSP00000237596.2:p.Ala127=
NM_000297.3:c.381C>G NP_000288.1:p.Ala127=
XM_011532028.1:c.381C>G XP_011530330.1:p.Ala127=
XR_244632.2:n.476C>G
NR_156488.1:n.468C>G
XM_011532028.2:c.381C>G XP_011530330.1:p.Ala127=
NM_000297.4:c.381C>G MANE Select NP_000288.1:p.Ala127=
NR_156488.2:n.480C>G