Canonical Allele Identifier: CA440268305
Gene: PKD2 HGNC NCBI

Linked Data

dbSNP Id: rs1163916860
gnomAD v3: 4-88007769-C-T
gnomAD v4: 4-88007769-C-T
MyVariant Identifiers: chr4:g.88928921C>T (hg19) chr4:g.88007769C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007769C>T , CM000666.2:g.88007769C>T GRCh38
NC_000004.11:g.88928921C>T , CM000666.1:g.88928921C>T GRCh37
NC_000004.10:g.89147945C>T NCBI36
NG_008604.1:g.5102C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.36C>T MANE Select ENSP00000237596.2:p.Pro12=
ENST00000237596.6:c.36C>T ENSP00000237596.2:p.Pro12=
NM_000297.3:c.36C>T NP_000288.1:p.Pro12=
XM_011532028.1:c.36C>T XP_011530330.1:p.Pro12=
XR_244632.2:n.131C>T
NR_156488.1:n.123C>T
XM_011532028.2:c.36C>T XP_011530330.1:p.Pro12=
NM_000297.4:c.36C>T MANE Select NP_000288.1:p.Pro12=
NR_156488.2:n.135C>T
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