Canonical Allele Identifier: CA251489
Community Standard Title: NM_018139.3(DNAAF2):c.23C>A (p.Ser8Ter)
Gene: DNAAF2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49635127G>T , CM000676.2:g.49635127G>T GRCh38
NC_000014.8:g.50101845G>T , CM000676.1:g.50101845G>T GRCh37
NC_000014.7:g.49171595G>T NCBI36
NG_013070.1:g.5104C>A

Transcript Alleles

HGVS Amino-acid Change
NM_018139.3:c.23C>A MANE Select NP_060609.2:p.Ser8Ter
ENST00000298292.13:c.23C>A MANE Select ENSP00000298292.8:p.Ser8Ter
NM_001083908.1:c.23C>A NP_001077377.1:p.Ser8Ter
NM_001083908.2:c.23C>A NP_001077377.1:p.Ser8Ter
NM_018139.2:c.23C>A NP_060609.2:p.Ser8Ter
ENST00000298292.12:c.23C>A ENSP00000298292.8:p.Ser8Ter
ENST00000406043.3:c.23C>A ENSP00000384862.3:p.Ser8Ter
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