Canonical Allele Identifier: CA7173040

Gene: DNAAF2

Linked Data

• ClinVar Variation Id: 313282
• ClinVar RCV Id: RCV000346072 ; RCV001247006
• dbSNP Id: rs754858452
• ExAC: 14:50101134 G / A
• gnomAD v2: 14-50101134-G-A
• gnomAD v3: 14-49634416-G-A
• gnomAD v4: 14-49634416-G-A
• MyVariant Identifiers: chr14:g.50101134G>A (hg19) ; chr14:g.49634416G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.49634416G>A , CM000676.2:g.49634416G>A	GRCh38
NC_000014.8:g.50101134G>A , CM000676.1:g.50101134G>A	GRCh37
NC_000014.7:g.49170884G>A	NCBI36
NG_013070.1:g.5815C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298292.13:c.734C>T MANE Select	ENSP00000298292.8:p.Ala245Val
ENST00000298292.12:c.734C>T	ENSP00000298292.8:p.Ala245Val
ENST00000406043.3:c.734C>T	ENSP00000384862.3:p.Ala245Val
NM_001083908.1:c.734C>T	NP_001077377.1:p.Ala245Val
NM_018139.2:c.734C>T	NP_060609.2:p.Ala245Val
NM_001083908.2:c.734C>T	NP_001077377.1:p.Ala245Val
NM_018139.3:c.734C>T MANE Select	NP_060609.2:p.Ala245Val