Canonical Allele Identifier: CA11037072

Gene: PTCHD3P2 KLHL23

Linked Data

• dbSNP Id: rs2114646
• gnomAD v2: 2-170624221-C-T
• gnomAD v3: 2-169767711-C-T
• gnomAD v4: 2-169767711-C-T
• MyVariant Identifiers: chr2:g.170624221C>T (hg19) ; chr2:g.169767711C>T (hg38)

Genomic Alleles

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

Transcript Alleles

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