Canonical Allele Identifier: CA1065142214
Gene: PKD2 HGNC NCBI

Linked Data

dbSNP Id: rs1726213224
gnomAD v3: 4-88007653-G-T
gnomAD v4: 4-88007653-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007653G>T , CM000666.2:g.88007653G>T GRCh38
NC_000004.11:g.88928805G>T , CM000666.1:g.88928805G>T GRCh37
NC_000004.10:g.89147829G>T NCBI36
NG_008604.1:g.4986G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.-81G>T MANE Select ENSP00000237596.2:n.-81G>T
NM_000297.3:c.-81G>T NP_000288.1:n.-81G>T
XM_011532028.1:c.-81G>T XP_011530330.1:n.-81G>T
XR_244632.2:n.15G>T
NR_156488.1:n.7G>T
NM_000297.4:c.-81G>T MANE Select NP_000288.1:n.-81G>T
NR_156488.2:n.19G>T
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