Canonical Allele Identifier: CA10640238
Gene: DNAAF2 HGNC NCBI

Linked Data

ClinVar Variation Id: 313271
ClinVar RCV Id: RCV000341410
dbSNP Id: rs886050524
gnomAD v2: 14-50091965-TAAAAC-T
gnomAD v3: 14-49625247-TAAAAC-T
gnomAD v4: 14-49625247-TAAAAC-T
MyVariant Identifiers: chr14:g.50091966_50091970del (hg19) chr14:g.49625248_49625252del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49625248_49625252del , CM000676.2:g.49625248_49625252del GRCh38
NC_000014.8:g.50091966_50091970del , CM000676.1:g.50091966_50091970del GRCh37
NC_000014.7:g.49161716_49161720del NCBI36
NG_008920.1:g.9478_9482del
NG_013070.1:g.14979_14983del
NG_033054.1:g.380_384del

Transcript Alleles

HGVS Amino-acid Change
ENST00000298292.13:c.*290_*294del MANE Select ENSP00000298292.8:n.*290_*294del
ENST00000298292.12:c.*290_*294del ENSP00000298292.8:n.*290_*294del
ENST00000406043.3:c.*290_*294del ENSP00000384862.3:n.*290_*294del
NM_001083908.1:c.*290_*294del NP_001077377.1:n.*290_*294del
NM_018139.2:c.*290_*294del NP_060609.2:n.*290_*294del
NM_001083908.2:c.*290_*294del NP_001077377.1:n.*290_*294del
NM_001378453.1:c.*290_*294del NP_001365382.1:n.*290_*294del
NM_018139.3:c.*290_*294del MANE Select NP_060609.2:n.*290_*294del
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