Canonical Allele Identifier: CA7172784
Community Standard Title: NM_018139.3(DNAAF2):c.1969C>T (p.Leu657Phe)
Gene: DNAAF2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49628050G>A , CM000676.2:g.49628050G>A GRCh38
NC_000014.8:g.50094768G>A , CM000676.1:g.50094768G>A GRCh37
NC_000014.7:g.49164518G>A NCBI36
NG_013070.1:g.12181C>T

Transcript Alleles

HGVS Amino-acid Change
NM_018139.3:c.1969C>T MANE Select NP_060609.2:p.Leu657Phe
ENST00000298292.13:c.1969C>T MANE Select ENSP00000298292.8:p.Leu657Phe
NM_001083908.1:c.1864-2002C>T NP_001077377.1:n.1864-2002C>T
NM_001083908.2:c.1864-2002C>T NP_001077377.1:n.1864-2002C>T
NM_001378453.1:c.-204-2002C>T NP_001365382.1:n.-204-2002C>T
NM_018139.2:c.1969C>T NP_060609.2:p.Leu657Phe
ENST00000298292.12:c.1969C>T ENSP00000298292.8:p.Leu657Phe
ENST00000406043.3:c.1864-2002C>T ENSP00000384862.3:n.1864-2002C>T
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