Canonical Allele Identifier: CA1099670

Gene: RPTN PUDPP2

Linked Data

• ClinVar Variation Id: 2389652
• ClinVar RCV Id: RCV004231785
• dbSNP Id: rs202103255
• ExAC: 1:152128886 C / T
• gnomAD v2: 1-152128886-C-T
• gnomAD v3: 1-152156410-C-T
• gnomAD v4: 1-152156410-C-T
• MyVariant Identifiers: chr1:g.152128886C>T (hg19) ; chr1:g.152156410C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.152156410C>T , CM000663.2:g.152156410C>T	GRCh38
NC_000001.10:g.152128886C>T , CM000663.1:g.152128886C>T	GRCh37
NC_000001.9:g.150395510C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316073.3:c.689G>A (RPTN) MANE Select	ENSP00000317895.3:p.Arg230Gln
ENST00000628080.1:n.48-31705G>A (PUDPP2)
NM_001122965.1:c.689G>A (RPTN) MANE Select	NP_001116437.1:p.Arg230Gln