Canonical Allele Identifier: CA2104288
Gene: CATIP HGNC NCBI
CATIP-AS2 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.218357172T>A
GRCh37 chr2:g.219221895T>A
Revel Score:
ENST00000289388 (MANE Select) 0.364
gnomAD v2:
2:219221895 T / A
gnomAD v3:
2:218357172 T / A
gnomAD v4:
chr2-218357172-T-A
Joint Max Group AF 0.0004291 (MID)
Genomes Max Group AF 0.00002848 (NFE)
Exomes Max Group AF 0.00045303 (MID)
ClinVar RCV:
RCV001526835
ClinVar Variation:
1172755
dbSNP:
141560868
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218357172T>A , CM000664.2:g.218357172T>A GRCh38
NC_000002.11:g.219221895T>A , CM000664.1:g.219221895T>A GRCh37
NC_000002.10:g.218930139T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000289388.4:c.103T>A (CATIP) MANE Select ENSP00000289388.3:p.Phe35Ile
ENST00000289388.3:c.103T>A (CATIP) ENSP00000289388.3:p.Phe35Ile
ENST00000480532.1:n.125T>A (CATIP)
NM_198559.1:c.103T>A (CATIP) NP_940961.1:p.Phe35Ile
NR_125777.1:n.53+742A>T (CATIP-AS2)
XM_005246539.3:c.25+263T>A (CATIP) XP_005246596.1:n.25+263T>A
XM_005246541.3:c.25+263T>A (CATIP) XP_005246598.1:n.25+263T>A
XM_011511147.1:c.136T>A (CATIP) XP_011509449.1:p.Phe46Ile
XM_011511148.1:c.136T>A (CATIP) XP_011509450.1:p.Phe46Ile
XM_011511150.1:c.-78+263T>A (CATIP) XP_011509452.1:n.-78+263T>A
NM_001320865.1:c.136T>A (CATIP) NP_001307794.1:p.Phe46Ile
XM_005246539.4:c.25+263T>A (CATIP) XP_005246596.1:n.25+263T>A
XM_005246541.4:c.25+263T>A (CATIP) XP_005246598.1:n.25+263T>A
XM_011511148.2:c.136T>A (CATIP) XP_011509450.1:p.Phe46Ile
XM_011511150.2:c.-78+263T>A (CATIP) XP_011509452.1:n.-78+263T>A
NM_198559.2:c.103T>A (CATIP) MANE Select NP_940961.1:p.Phe35Ile
NM_001320865.2:c.136T>A (CATIP) NP_001307794.1:p.Phe46Ile
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