Canonical Allele Identifier: CA357625171
Gene: PKD2 HGNC NCBI

Linked Data

gnomAD v4: 4-88007833-G-T

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.100G>T MANE Select ENSP00000237596.2:p.Ala34Ser
ENST00000237596.6:c.100G>T ENSP00000237596.2:p.Ala34Ser
NM_000297.3:c.100G>T NP_000288.1:p.Ala34Ser
XM_011532028.1:c.100G>T XP_011530330.1:p.Ala34Ser
XR_244632.2:n.195G>T
NR_156488.1:n.187G>T
XM_011532028.2:c.100G>T XP_011530330.1:p.Ala34Ser
NM_000297.4:c.100G>T MANE Select NP_000288.1:p.Ala34Ser
NR_156488.2:n.199G>T