Canonical Allele Identifier: CA1099343

Gene: RPTN PUDPP2

Linked Data

• ClinVar Variation Id: 2458636
• ClinVar RCV Id: RCV004248907
• dbSNP Id: rs201680235
• ExAC: 1:152127372 T / C
• gnomAD v2: 1-152127372-T-C
• gnomAD v3: 1-152154896-T-C
• gnomAD v4: 1-152154896-T-C
• MyVariant Identifiers: chr1:g.152127372T>C (hg19) ; chr1:g.152154896T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.152154896T>C , CM000663.2:g.152154896T>C	GRCh38
NC_000001.10:g.152127372T>C , CM000663.1:g.152127372T>C	GRCh37
NC_000001.9:g.150393996T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316073.3:c.2203A>G (RPTN) MANE Select	ENSP00000317895.3:p.Lys735Glu
ENST00000628080.1:n.48-30191A>G (PUDPP2)
NM_001122965.1:c.2203A>G (RPTN) MANE Select	NP_001116437.1:p.Lys735Glu