Canonical Allele Identifier: CA7085721
Gene: RNASE13 HGNC NCBI
NDRG2 HGNC NCBI
TPPP2 HGNC NCBI

Linked Data

dbSNP Id: rs3748348
ExAC: 14:21501195 G / A
gnomAD v2: 14-21501195-G-A
gnomAD v3: 14-21033036-G-A
gnomAD v4: 14-21033036-G-A
MyVariant Identifiers: chr14:g.21501195G>A (hg19) chr14:g.21033036G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21033036G>A , CM000676.2:g.21033036G>A GRCh38
NC_000014.8:g.21501195G>A , CM000676.1:g.21501195G>A GRCh37
NC_000014.7:g.20571035G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000382951.4:c.*782C>T (RNASE13) MANE Select ENSP00000372410.3:n.*782C>T
ENST00000382951.3:c.*782C>T (RNASE13) ENSP00000372410.3:n.*782C>T
ENST00000403829.7:c.25-9715C>T (NDRG2) ENSP00000385889.3:n.25-9715C>T
ENST00000472458.5:c.327+1871G>A (TPPP2) ENSP00000423171.1:n.327+1871G>A
ENST00000481535.5:c.373+656G>A (TPPP2) ENSP00000421438.1:n.373+656G>A
ENST00000495665.2:c.302+1871G>A (TPPP2)
ENST00000529496.1:n.563+1871G>A (TPPP2)
ENST00000555026.5:c.-6-9715C>T (NDRG2) ENSP00000451274.1:n.-6-9715C>T
ENST00000555751.1:c.204+656G>A (TPPP2)
NM_001012264.3:c.*782C>T (RNASE13) NP_001012264.1:n.*782C>T
NM_001282211.1:c.25-9715C>T (NDRG2) NP_001269140.1:n.25-9715C>T
XM_011536416.1:c.327+1871G>A (TPPP2) XP_011534718.1:n.327+1871G>A
XM_011536420.1:c.*13+656G>A (TPPP2) XP_011534722.1:n.*13+656G>A
XM_011536421.1:c.*13+656G>A (TPPP2) XP_011534723.1:n.*13+656G>A
XR_429288.2:n.451+1871G>A (TPPP2)
XM_011536420.2:c.*13+656G>A (TPPP2) XP_011534722.1:n.*13+656G>A
NM_001012264.4:c.*782C>T (RNASE13) MANE Select NP_001012264.1:n.*782C>T
NM_001282211.2:c.25-9715C>T (NDRG2) NP_001269140.1:n.25-9715C>T
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