Canonical Allele Identifier: CA7172777
Gene: DNAAF2 HGNC NCBI
ClinVar RCV:
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49628002A>G , CM000676.2:g.49628002A>G GRCh38
NC_000014.8:g.50094720A>G , CM000676.1:g.50094720A>G GRCh37
NC_000014.7:g.49164470A>G NCBI36
NG_013070.1:g.12229T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000298292.13:c.2007+10T>C MANE Select ENSP00000298292.8:n.2007+10T>C
ENST00000298292.12:c.2007+10T>C ENSP00000298292.8:n.2007+10T>C
ENST00000406043.3:c.1864-1954T>C ENSP00000384862.3:n.1864-1954T>C
NM_001083908.1:c.1864-1954T>C NP_001077377.1:n.1864-1954T>C
NM_018139.2:c.2007+10T>C NP_060609.2:n.2007+10T>C
NM_001083908.2:c.1864-1954T>C NP_001077377.1:n.1864-1954T>C
NM_001378453.1:c.-204-1954T>C NP_001365382.1:n.-204-1954T>C
NM_018139.3:c.2007+10T>C MANE Select NP_060609.2:n.2007+10T>C