Canonical Allele Identifier: CA7172744
Gene: DNAAF2 HGNC NCBI

Linked Data

ClinVar Variation Id: 454903
ClinVar RCV Id: RCV000528649
dbSNP Id: rs779403171
ExAC: 14:50092596 T / C
gnomAD v2: 14-50092596-T-C
gnomAD v3: 14-49625878-T-C
gnomAD v4: 14-49625878-T-C
MyVariant Identifiers: chr14:g.50092596T>C (hg19) chr14:g.49625878T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49625878T>C , CM000676.2:g.49625878T>C GRCh38
NC_000014.8:g.50092596T>C , CM000676.1:g.50092596T>C GRCh37
NC_000014.7:g.49162346T>C NCBI36
NG_013070.1:g.14353A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000298292.13:c.2178A>G MANE Select ENSP00000298292.8:p.Thr726=
ENST00000298292.12:c.2178A>G ENSP00000298292.8:p.Thr726=
ENST00000406043.3:c.2034A>G ENSP00000384862.3:p.Thr678=
NM_001083908.1:c.2034A>G NP_001077377.1:p.Thr678=
NM_018139.2:c.2178A>G NP_060609.2:p.Thr726=
NM_001083908.2:c.2034A>G NP_001077377.1:p.Thr678=
NM_001378453.1:c.-34A>G NP_001365382.1:n.-34A>G
NM_018139.3:c.2178A>G MANE Select NP_060609.2:p.Thr726=
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