Canonical Allele Identifier: CA59574581
Gene: PTCHD3P2 HGNC NCBI
KLHL23 HGNC NCBI

Linked Data

dbSNP Id: rs531587614
gnomAD v3: 2-169767636-T-C
gnomAD v4: 2-169767636-T-C
MyVariant Identifiers: chr2:g.170624146T>C (hg19) chr2:g.169767636T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.169767636T>C , CM000664.2:g.169767636T>C GRCh38
NC_000002.11:g.170624146T>C , CM000664.1:g.170624146T>C GRCh37
NC_000002.10:g.170332392T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000424937.1:n.1087+77A>G (PTCHD3P2)
ENST00000437875.1:c.830-5684T>C (KLHL23) ENSP00000394732.1:n.830-5684T>C
ENST00000448589.1:c.46-8805T>C (KLHL23)
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