Canonical Allele Identifier: CA10612417
Gene: PNKD HGNC NCBI

Linked Data

ClinVar Variation Id: 334304
ClinVar RCV Id: RCV000285261 RCV001590978
dbSNP Id: rs183319984
gnomAD v2: 2-219135154-A-T
gnomAD v3: 2-218270431-A-T
gnomAD v4: 2-218270431-A-T
MyVariant Identifiers: chr2:g.219135154A>T (hg19) chr2:g.218270431A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218270431A>T , CM000664.2:g.218270431A>T GRCh38
NC_000002.11:g.219135154A>T , CM000664.1:g.219135154A>T GRCh37
NC_000002.10:g.218843398A>T NCBI36
NG_017060.1:g.5040A>T
NG_033036.1:g.4740T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000691799.1:n.70+711A>T
ENST00000248451.7:c.-105A>T ENSP00000248451.3:n.-105A>T
NM_001077399.2:c.-105A>T NP_001070867.1:n.-105A>T
NM_015488.4:c.-105A>T NP_056303.3:n.-105A>T
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