Canonical Allele Identifier: CA357627132
Gene: PKD2 HGNC NCBI

Linked Data

dbSNP Id: rs1213818861
gnomAD v2: 4-88929444-G-A
gnomAD v3: 4-88008292-G-A
gnomAD v4: 4-88008292-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88008292G>A , CM000666.2:g.88008292G>A GRCh38
NC_000004.11:g.88929444G>A , CM000666.1:g.88929444G>A GRCh37
NC_000004.10:g.89148468G>A NCBI36
NG_008604.1:g.5625G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.559G>A MANE Select ENSP00000237596.2:p.Val187Met
ENST00000237596.6:c.559G>A ENSP00000237596.2:p.Val187Met
ENST00000506727.1:n.61G>A
NM_000297.3:c.559G>A NP_000288.1:p.Val187Met
XM_011532028.1:c.559G>A XP_011530330.1:p.Val187Met
XR_244632.2:n.654G>A
NR_156488.1:n.646G>A
XM_011532028.2:c.559G>A XP_011530330.1:p.Val187Met
NM_000297.4:c.559G>A MANE Select NP_000288.1:p.Val187Met
NR_156488.2:n.658G>A