Canonical Allele Identifier: CA339078
Gene: DNAAF2 HGNC NCBI

Linked Data

ClinVar Variation Id: 215525
ClinVar RCV Id: RCV000200076
dbSNP Id: rs147110554
ExAC: 14:50092587 T / C
gnomAD v2: 14-50092587-T-C
gnomAD v3: 14-49625869-T-C
gnomAD v4: 14-49625869-T-C
MyVariant Identifiers: chr14:g.50092587T>C (hg19) chr14:g.49625869T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49625869T>C , CM000676.2:g.49625869T>C GRCh38
NC_000014.8:g.50092587T>C , CM000676.1:g.50092587T>C GRCh37
NC_000014.7:g.49162337T>C NCBI36
NG_013070.1:g.14362A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000298292.13:c.2187A>G MANE Select ENSP00000298292.8:p.Gln729=
ENST00000298292.12:c.2187A>G ENSP00000298292.8:p.Gln729=
ENST00000406043.3:c.2043A>G ENSP00000384862.3:p.Gln681=
NM_001083908.1:c.2043A>G NP_001077377.1:p.Gln681=
NM_018139.2:c.2187A>G NP_060609.2:p.Gln729=
NM_001083908.2:c.2043A>G NP_001077377.1:p.Gln681=
NM_001378453.1:c.-25A>G NP_001365382.1:n.-25A>G
NM_018139.3:c.2187A>G MANE Select NP_060609.2:p.Gln729=
Search 100 bp 5'
Search 100 bp 3'