Canonical Allele Identifier: CA16462814
Gene: TPTE2P1 HGNC NCBI
COSMIC:
COSN15315339 (not active)
MyVariant.info:
GRCh38 chr13:g.24959693A>C
GRCh37 chr13:g.25533831A>C
gnomAD v2:
13:25533831 A / C
gnomAD v3:
13:24959693 A / C
gnomAD v4:
chr13-24959693-A-C
Joint Max Group AF 0.58685661 (AFR)
Genomes Max Group AF 0.58539948 (AFR)
Exomes Max Group AF 0.58388763 (AFR)
dbSNP:
2483374
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.24959693A>C , CM000675.2:g.24959693A>C GRCh38
NC_000013.10:g.25533831A>C , CM000675.1:g.25533831A>C GRCh37
NC_000013.9:g.24431831A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000429698.2:n.289-8205T>G
ENST00000685124.1:n.293-4824T>G
ENST00000687945.1:n.280-8205T>G
ENST00000688349.1:n.280-4824T>G
ENST00000688382.1:n.276-4824T>G
ENST00000688513.1:n.342-4824T>G
ENST00000690064.1:n.297-4824T>G
ENST00000692136.1:n.301-8205T>G
ENST00000692241.1:n.297-4824T>G
ENST00000692717.1:n.280-4824T>G
ENST00000649209.1:n.411+2056T>G
ENST00000429698.1:n.283-8205T>G
ENST00000434100.5:n.134+7699T>G
ENST00000435256.1:n.329+41T>G
NR_026730.1:n.265-8205T>G
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