Canonical Allele Identifier: CA14589550
Gene: CNDP2 HGNC NCBI
MyVariant.info:
GRCh38 chr18:g.74522015C>A
GRCh37 chr18:g.72189250C>A
gnomAD v2:
18:72189250 C / A
gnomAD v3:
18:74522015 C / A
gnomAD v4:
chr18-74522015-C-A
Joint Max Group AF 0.9929553 (NFE)
Genomes Max Group AF 0.99295485 (NFE)
Exomes Max Group AF 0.60456626 (NFE)
dbSNP:
12717111
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.74522015C>A , CM000680.2:g.74522015C>A GRCh38
NC_000018.9:g.72189250C>A , CM000680.1:g.72189250C>A GRCh37
NC_000018.8:g.70340230C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000324262.9:c.*1947C>A MANE Select ENSP00000325548.4:n.*1947C>A
ENST00000324262.8:c.*1947C>A ENSP00000325548.4:n.*1947C>A
NM_001168499.1:c.*1947C>A NP_001161971.1:n.*1947C>A
NM_018235.2:c.*1947C>A NP_060705.2:n.*1947C>A
NM_018235.3:c.*1947C>A MANE Select NP_060705.2:n.*1947C>A
NM_001370248.1:c.*1947C>A NP_001357177.1:n.*1947C>A
NM_001370249.1:c.*1947C>A NP_001357178.1:n.*1947C>A
NM_001370250.1:c.*1947C>A NP_001357179.1:n.*1947C>A
NM_001370254.1:c.*1947C>A NP_001357183.1:n.*1947C>A
NM_001168499.2:c.*1947C>A NP_001161971.1:n.*1947C>A
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