Canonical Allele Identifier: CA7172742
Gene: DNAAF2 HGNC NCBI

Linked Data

ClinVar Variation Id: 411171
ClinVar RCV Id: RCV000462515
dbSNP Id: rs777882844
ExAC: 14:50092583 C / G
gnomAD v2: 14-50092583-C-G
gnomAD v3: 14-49625865-C-G
gnomAD v4: 14-49625865-C-G
MyVariant Identifiers: chr14:g.50092583C>G (hg19) chr14:g.49625865C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49625865C>G , CM000676.2:g.49625865C>G GRCh38
NC_000014.8:g.50092583C>G , CM000676.1:g.50092583C>G GRCh37
NC_000014.7:g.49162333C>G NCBI36
NG_013070.1:g.14366G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000298292.13:c.2191G>C MANE Select ENSP00000298292.8:p.Glu731Gln
ENST00000298292.12:c.2191G>C ENSP00000298292.8:p.Glu731Gln
ENST00000406043.3:c.2047G>C ENSP00000384862.3:p.Glu683Gln
NM_001083908.1:c.2047G>C NP_001077377.1:p.Glu683Gln
NM_018139.2:c.2191G>C NP_060609.2:p.Glu731Gln
NM_001083908.2:c.2047G>C NP_001077377.1:p.Glu683Gln
NM_001378453.1:c.-21G>C NP_001365382.1:n.-21G>C
NM_018139.3:c.2191G>C MANE Select NP_060609.2:p.Glu731Gln
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