Canonical Allele Identifier: CA357625168
Gene: PKD2 HGNC NCBI

Linked Data

gnomAD v4: 4-88007833-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007833G>A , CM000666.2:g.88007833G>A GRCh38
NC_000004.11:g.88928985G>A , CM000666.1:g.88928985G>A GRCh37
NC_000004.10:g.89148009G>A NCBI36
NG_008604.1:g.5166G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.100G>A MANE Select ENSP00000237596.2:p.Ala34Thr
ENST00000237596.6:c.100G>A ENSP00000237596.2:p.Ala34Thr
NM_000297.3:c.100G>A NP_000288.1:p.Ala34Thr
XM_011532028.1:c.100G>A XP_011530330.1:p.Ala34Thr
XR_244632.2:n.195G>A
NR_156488.1:n.187G>A
XM_011532028.2:c.100G>A XP_011530330.1:p.Ala34Thr
NM_000297.4:c.100G>A MANE Select NP_000288.1:p.Ala34Thr
NR_156488.2:n.199G>A