Canonical Allele Identifier: CA59574596

Gene: PTCHD3P2 KLHL23

Linked Data

• dbSNP Id: rs2114646
• gnomAD v3: 2-169767711-C-A
• gnomAD v4: 2-169767711-C-A
• MyVariant Identifiers: chr2:g.170624221C>A (hg19) ; chr2:g.169767711C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169767711C>A , CM000664.2:g.169767711C>A	GRCh38
NC_000002.11:g.170624221C>A , CM000664.1:g.170624221C>A	GRCh37
NC_000002.10:g.170332467C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000424937.1:n.1087+2G>T (PTCHD3P2)
ENST00000437875.1:c.830-5609C>A (KLHL23)	ENSP00000394732.1:n.830-5609C>A
ENST00000448589.1:c.46-8730C>A (KLHL23)