Canonical Allele Identifier: CA260662246
Gene: DNAAF2 HGNC NCBI

Linked Data

ClinVar Variation Id: 454902
ClinVar RCV Id: RCV000554494
dbSNP Id: rs961303731
gnomAD v2: 14-50092640-T-C
gnomAD v3: 14-49625922-T-C
gnomAD v4: 14-49625922-T-C
MyVariant Identifiers: chr14:g.50092640T>C (hg19) chr14:g.49625922T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49625922T>C , CM000676.2:g.49625922T>C GRCh38
NC_000014.8:g.50092640T>C , CM000676.1:g.50092640T>C GRCh37
NC_000014.7:g.49162390T>C NCBI36
NG_013070.1:g.14309A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000298292.13:c.2134A>G MANE Select ENSP00000298292.8:p.Ile712Val
ENST00000298292.12:c.2134A>G ENSP00000298292.8:p.Ile712Val
ENST00000406043.3:c.1990A>G ENSP00000384862.3:p.Ile664Val
NM_001083908.1:c.1990A>G NP_001077377.1:p.Ile664Val
NM_018139.2:c.2134A>G NP_060609.2:p.Ile712Val
NM_001083908.2:c.1990A>G NP_001077377.1:p.Ile664Val
NM_001378453.1:c.-78A>G NP_001365382.1:n.-78A>G
NM_018139.3:c.2134A>G MANE Select NP_060609.2:p.Ile712Val
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Search 100 bp 3'