Canonical Allele Identifier: CA100872981
Gene: PKD2 HGNC NCBI

Linked Data

dbSNP Id: rs938764650
gnomAD v3: 4-88007783-G-T
gnomAD v4: 4-88007783-G-T
MyVariant Identifiers: chr4:g.88928935G>T (hg19) chr4:g.88007783G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007783G>T , CM000666.2:g.88007783G>T GRCh38
NC_000004.11:g.88928935G>T , CM000666.1:g.88928935G>T GRCh37
NC_000004.10:g.89147959G>T NCBI36
NG_008604.1:g.5116G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.50G>T MANE Select ENSP00000237596.2:p.Arg17Leu
ENST00000237596.6:c.50G>T ENSP00000237596.2:p.Arg17Leu
NM_000297.3:c.50G>T NP_000288.1:p.Arg17Leu
XM_011532028.1:c.50G>T XP_011530330.1:p.Arg17Leu
XR_244632.2:n.145G>T
NR_156488.1:n.137G>T
XM_011532028.2:c.50G>T XP_011530330.1:p.Arg17Leu
NM_000297.4:c.50G>T MANE Select NP_000288.1:p.Arg17Leu
NR_156488.2:n.149G>T
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