Canonical Allele Identifier: CA59574570
Gene: PTCHD3P2 HGNC NCBI
KLHL23 HGNC NCBI

Linked Data

dbSNP Id: rs938161127
gnomAD v2: 2-170624132-T-C
gnomAD v3: 2-169767622-T-C
gnomAD v4: 2-169767622-T-C
MyVariant Identifiers: chr2:g.170624132T>C (hg19) chr2:g.169767622T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.169767622T>C , CM000664.2:g.169767622T>C GRCh38
NC_000002.11:g.170624132T>C , CM000664.1:g.170624132T>C GRCh37
NC_000002.10:g.170332378T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000424937.1:n.1087+91A>G (PTCHD3P2)
ENST00000437875.1:c.830-5698T>C (KLHL23) ENSP00000394732.1:n.830-5698T>C
ENST00000448589.1:c.46-8819T>C (KLHL23)
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